Volume 20 No 22 (2022)
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Novel splice-site variation in SLC26A4 causes autosomal recessive nonsyndromic hearing loss in a consanguineous Indian family
Mangesh N. Deokar and Nitu Singh
Variants in the SLC26A4 gene are correlated with autosomal recessive nonsyndromic hearing loss. This study aimed to identify the genetic causes in a in a consanguineous Indian family and cause pathogenicity of the detected variants.
SLC26A4 gene, c.1614+5G>A, ARNSHL.
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