Specifications of ACMG/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen's Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

被引：0
|
作者：
Ross, Justyne [1 ]
McLean, Benjamin [1 ]
Leon-Lozano, Grace [1 ]
Jacovas, Vanessa [2 ]
Zelnick, Michelle [2 ]
Chan, Alice [3 ]
van Oers, Nicolai [4 ]
Johnson, Britt [5 ]
Chinn, Ivan [2 ]
机构：
[1] Univ N Carolina, Chapel Hill, NC USA
[2] Baylor Coll Med, Boston, MA USA
[3] Univ Calif San Francisco, San Francisco, CA USA
[4] UT SouthWestern Med Ctr, Dallas, TX USA
[5] Invitae Corp, San Francisco, CA USA
来源：
CLINICAL IMMUNOLOGY | 2024年 / 262卷
关键词：
SCID; Variant classification; ClinGen;
D O I：
10.1016/j.clim.2024.109983
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
41
引用
收藏
页数：1
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