A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA.
Solovyev AV, et al. Among authors: kadasi l.
Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27.
Hum Genet. 2022.
PMID: 34839402