A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss.
Frontiers in pediatrics(2022)
摘要
We shown a novel frameshift mutation in associated with autosomal recessive NSHL in a Han Chinese family.
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关键词
TMPRSS3,homozygous,mutation,non-syndromic hearing loss,whole-exome sequencing
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