数据库名称：SMPD1 gene
数据库简述：
所属国家/地区：Italy
数据库主要信息：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.
建立年份：2016
联系信息：Contact information
University/Institution:
University Hospital Santa Maria della Misericordia
Address:
Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
City:
Udine
Province/State:
Country/Region:
Italy
Contact name (PI/Team):
Andrea Dardis
Contact email (PI/Helpdesk):
dardis.andrea@aoud.sanita.fvg.it
