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Page 1
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC Musculoskelet Disord. 2020 Apr 11;21(1):220. doi: 10.1186/s12891-020-03229-x.
BMC Musculoskelet Disord. 2020.
PMID: 32278351
Free PMC article.
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Z, Yan Z, Yu C, Liu J, Zhang Y, Zhao S, Lin J, Zhang Y, Wang L, Lin M, Huang Y, Li X, Niu Y, Wang S, Wu Z; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Qiu G, Zhang TJ, Wu N.
Chen Z, et al.
Orphanet J Rare Dis. 2020 Sep 15;15(1):250. doi: 10.1186/s13023-020-01537-y.
Orphanet J Rare Dis. 2020.
PMID: 32933559
Free PMC article.
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N.
Liu J, et al.
Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17.
Hum Genet. 2018.
PMID: 30019117
Free PMC article.
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