Article

A Splice-site Variant (C.3289-1G>T) in OTOF Underlies Profound Hearing Loss in a Pakistani Kindred

2020-12-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown.<bold>Methods:</bold> A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for t...

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Literature Corpus work: 5d505b4c-d3fa-541c-b861-ad9528224302
DOI: 10.21203/rs.3.rs-122011/v1

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