数据库名称:The Biotinidase Gene Variants Registry
数据库简述:
所属国家/地区:United States
数据库主要信息:All sequence variants have been verified for their positions within the BTD gene and designated according to standard nomenclature suggested by Human Genome Variation Society (HGVS). In addition, we describe the change in the protein, indicate whether the variant is a known or likely mutation vs. a benign polymorphism, and include the reference that first described the alteration.
建立年份:2013
联系信息:Contact information
University/Institution:
University of Utah
Address:
City:
Province/State:
Country/Region:
United States
Contact name (PI/Team):
Rong Mao
Contact email (PI/Helpdesk):
rong.mao@aruplab.com