Homo sapiens isolate:syne1 Genome sequencing. Homo sapiens isolate:syne1
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA385742
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资源简介：
we reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family (proband, mother, and sister) with EDMD-like features (affected with progressive muscular dystrophy manifested by joint contracture without cardiac involvement), and 100 healthy individuals did not show such mutation.
创建时间：
2017-05-08
