SMPD1 gene
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://www.inpdr.org/genes
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资源简介：
SMPD1 catalogs the 417 SMPD1 variants reported to date and provides data on their in silico predicted effects on ASM protein function or mRNA splicing.It provides new insights into the genotype/phenotype correlation, is extremely valuable to facilitate diagnosis and genetic counseling of families affected by NPA/B.
提供机构：
University Hospital Santa Maria della Misericordia
创建时间：
2018-01-28
