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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Hum Mol Genet. 2018 Nov 1;27(21):3710-3719. doi: 10.1093/hmg/ddy287.
Hum Mol Genet. 2018.
PMID: 30085106
Free PMC article.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.
Gambin T, et al. Among authors: dengle l.
Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.
Genome Med. 2017.
PMID: 28934986
Free PMC article.
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