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Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. Mehinovic E, et al. Among authors: ekholm j. Am J Med Genet A. 2022 Jul;188(7):2071-2081. doi: 10.1002/ajmg.a.62743. Epub 2022 Apr 2. Am J Med Genet A. 2022. PMID: 35366058 Free PMC article.
172 results