Homo sapiens Genome sequencing and assembly. Homo sapiens
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA566266
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资源简介：
We assessed a consanguineous Iranian family with sensorineural HL. It led to the identification of a novel homozygous variant, c.530T>C; p.(lle177Thr), in the exon 10 of TMC1 gene which may alter the function of TMC1 protein.
创建时间：
2019-09-19
