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11112665,10205261,9328481,15798777,14756965,20498439,16114042,10533067,31525612,11468687,9463313,16554133,29196670,23389244,12015165,29476190,35918040,16981987,20633017,10570911,10607950,11564212,35440050,28178598,28288225,24271014,10533066,29432982,9829910,35596872,34328706,32461669,15624760,31855466,22608477,19133941,32313033,20877415,28623545,11179759,23661441,32555378,28087349,18032745,10227394,12111193,36232477,9242607,10090883,21345208,22189265,25281918,22490766,17287951,11208653,32917966,36732866,17120248,19259131,21062901,29500070,15874888,33171065,12773159,24737435,18302728,17304050,10349994,12773162,12773163,27406250,28065512,9382094,8944308,12040899,10633137,9006662,29740858,27776463,9863590,21268779,9302281,15595939,11829138,20165957,36719021,26728384,31160751,10534239,15024740,25498131,10732801,12037687,20687497,31937054,11675974,11758789,10340649,9924605,24917535,34680979,16940165,8824881,27457398,27494029,27859028,29932062,31927531,16225402,11281455,31591157,30190613,21811971,33612456,21541650,7547639,8824721,28211972,25782670,25927202,11288117,10823953,26703369,34741623,16624901,32854808,24714658,36833359,37141891,9989450,34465349,34573383,34403804,11290735,33517515,34860161,29843636,28127866,9529362,10330349,34635572,34229737,23744272,14614311,35793620,34252879,11005204,15951164,31850909,24683199,31114024,32383331,32103336,30024541,36030538,30236073,8950679,32216820,25900779,12172553,23696872,19420259,20959633,19747374,27907099,24884933,34480426,27862655,18350576,34433328,18410267,18538015,14559897,36894367,10577937,26252095,35358092,36469115,29642139,28215400,24633152,35870981,21407264,18794346,36115585,32647919,31140686,28771801,36104799,32735081,21266383,34849272,32211034,26540169,21910228,16897363,19443708,32479982,35060563,33974250,33051600,31176519,15576369,32873234,22805177,33110010,35527063,8634701,28808237,31761686,31799751,14993219,12364343,19357198,35292049,8755927,33317733,20146692,21403110,32533299,28222202,32842942,33398801,29572283,33177398,27890237,33786950,32588887,20146790,33181865,21329690,32917147,30127391,26220190,7849708,29926239,25227171,23846400,33536341,23006675,23349360,29803333,9250859,18397877,21567926,22198573,21418539,34017900,18292222,16464865,30976976,35483879,33486073,24604753,21949787,24477276,23254740,31083211,25946256,34964971,8943076,22936080,33210484,28643793,21403402,28710231,36547785,23687350,21407201,24558502,32502382,31586081,32139167,35145067,18408969,32718886,34534018,33307091,37015817,22752306,23504366,27061015,32303566,31925975,32340510,12192641,30479846,29659200,36142537,32761379,33552794,26893383,36585068,32966992,15611656,33602381,33693890,32921582,23123587,29666741,35858542,19912235,35119931,33011641,35638823,36238691,34993123,22025691,20882401,24770934,31847710,20658316,22707510,29924239,16912167,24143074,23341583,17034546,17888633,21827857,27112935,27698899,32655475,16835931,27768862,25943403,36317210,32725466,14718525,9685410,28695825,31542468,34488473,34763482,24668795,34262466,32954437,36845801,23703751,33565070,33694273,33436626,28298732,28367235,33929310,26332136,33041968,27516388,29127155,27748010,35712104,33293833,28488386,18978035,26350902,33270294,24840834,22363765,34096024,35366331,33834466,33225890,23660529,21828270,24073910,32578142,32660214,29540858,28250423,28828560,22068588,36115548,20237422,21949518,20087180,12136010,32530070,35359406,33578443,33679864,36229934,30838931,31534984,33391947,23756443,32775915,23664552,28496353,23291812,34177431,21966635,32953421,33071758,35429229,32988393,23514105,31187078,37152430,16540757,34491422,32542759,34298906,36445479,32733359,34576223,34886749,34877936,32519125,37063680,21509279,21533174,34154622,31820275,26052552,32654957,35961105,34593703,34475973,36895714,32532290,30860727,35692821,36855718,36117164,35860060,18245941,23757617,29344138,23851963,30763959,25563326,29925043,35248007,31077186,33821877,34399110,34806651,32889144,21547713,35759110,37091681,33183431,36453965,34601720,20404523,32566257,34176514,31070828,27308518,36370437,34208233,29881807,32977871,28232951,28844017,26543814,34059113,33421197,26108976,19609361,36527179,32346419,34416612,31377847,22018140,25114803,31505689,33882161,36793390,34730894,36572026,37091468,34295558,31439508,26504723,10759551,34584596,21079609,33298910,32804443,26958526,36044908,29285181,34764250,36979978,15635489,36960246,35005118,20223027,19829902,28435768,27708968,35361372,34092923,34136975,36302981[uid]

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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Sancak O, et al. Eur J Hum Genet. 2005 Jun;13(6):731-41. doi: 10.1038/sj.ejhg.5201402. Eur J Hum Genet. 2005. PMID: 15798777

[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].

Feng JH, Ding MP, Yang CW. Feng JH, et al. Zhonghua Er Ke Za Zhi. 2003 Mar;41(3):223-6. Zhonghua Er Ke Za Zhi. 2003. PMID: 14756965 Chinese.

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Crino PB, Aronica E, Baltuch G, Nathanson KL. Crino PB, et al. Neurology. 2010 May 25;74(21):1716-23. doi: 10.1212/WNL.0b013e3181e04325. Neurology. 2010. PMID: 20498439 Free PMC article.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group. Rendtorff ND, et al. Hum Mutat. 2005 Oct;26(4):374-83. doi: 10.1002/humu.20227. Hum Mutat. 2005. PMID: 16114042

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Niida Y, et al. Hum Mutat. 1999;14(5):412-22. doi: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10533067

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.

Lin S, Zeng JB, Zhao GX, Yang ZZ, Huang HP, Lin MT, Wu ZY, Wang N, Chen WJ, Fang L. Lin S, et al. Seizure. 2019 Oct;71:322-327. doi: 10.1016/j.seizure.2019.08.010. Epub 2019 Aug 23. Seizure. 2019. PMID: 31525612 Free article.

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V. Niida Y, et al. Am J Hum Genet. 2001 Sep;69(3):493-503. doi: 10.1086/321972. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468687 Free PMC article.

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