A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).
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O. Posukh | E. Khusnutdinova | S. Fedorova | M. I. Tomsky | N. Barashkov | L. Dzhemileva | A. Bondar | I. Morozov | E. Konnikova | G. Romanov | F. M. Teryutin | V. Pshennikova | A. Solovyev | L. A. Klarov | A. V. Tobokhov