SPRED1
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
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http://www.lovd.nl/SPRED1
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资源简介：
The database contains 89 different mutations identified in 146 unrelated probands, including 16 new variants described for the first time. The database contains a spectrum of mutations: 29 missense, 28 frameshift, 19 nonsense, eight copy number changes, two splicing, one silent, one in-frame deletion and a mutation affecting the initiation codon.
提供机构：
University of Alabama at Birmingham
创建时间：
2018-01-29
