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：

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：

引用

页数：1