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of their deafness filled by their parents. Most of the parents at 78% (CI 68.4–85.4%) attributed their children’s HI

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) and different types of hearing thresholds were found in female carrier of this POU3F4-variant. © 2017 Elsevier B.V








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