A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.

Ashfaque AhmedMeng WangRizwan KhanAbid Ali ShahHui GuoSajid MalikKun XiaZhengmao Hu

Published in: BMC medical genomics (2021)

Our findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.

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