数据库名称：SPRED1
数据库简述：SPRED1 mutation database
所属国家/地区：United States
数据库主要信息：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.
建立年份：2012
联系信息：Contact information
University/Institution:
University of Alabama at Birmingham
Address:
Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, 1530 3rd Avenue South, Kaul 330, Birmingham, Alabama 35294-0024
City:
Leuven
Province/State:
Country/Region:
United States
Contact name (PI/Team):
Ludwine Messiaen
Contact email (PI/Helpdesk):
dbabovic@mayo.edu
