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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

10 Oct 2018

Abstract excerpt

Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping, Sanger and exome sequencing to identify 163 DNA variants in 41 previously reported HL genes segregating in 321 Pakistani families. Of these, 70 (42.9%) variants...

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PMID: 30303587
DOI: 10.1002/humu.23666

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