The Biotinidase Gene Variants Registry数据库介绍

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

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