Article
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Cellular and molecular biology (Noisy-le-Grand, France) - 28 Jul 2024
Zhang Lan, Zhu Qingwen, Wu Yanzhao, Shi Ping
Abstract excerpt
Autosomal recessive non-syndromic hearing loss (ARNSHL) can cause severe or very severe pre-speech hearing loss. Transmembrane channel-like 1 (TMC1) gene is the sixth deafness gene discovered, but the precise extent of its protein structure and function is unknown. First, history collection, audiology examination and imaging examination were performed on the proband and his family members. Peripheral blood of...
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