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Fig. 4 | Human Genomics

Fig. 4

From: Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families

Fig. 4

OTOF gene structure, electropherograms, and in silico analysis. A The location of the identified variant with respect to the OTOF gene. Solid rectangles represent coding regions. B Electropherograms of a homozygous mutant profile (top panel), a heterozygous profile (middle panel), and a homozygous wild-type profile (bottom panel) for the c.5292-2A > C variant in the OTOF gene. C Pathogenicity predicted impact of the c.5292-2A > C variant at protein level. C2: Ca2 + -binding domain

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