Variant analysis of 92 Chinese Han families with hearing loss
Release date:
2021-11-17
Description:
We used targeted-NGS for genetic diagnosis of 18 NSHL probands. We identified 18 novel variants in 12 deafness genes, which enlarged the variant spectrum of deafness genes in the Han Chinese population. These findings help inform the genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness.
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Organization: National Research Institute for Family Planning
Submission date: 2021-11-16
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HRA001546.xlsx