Multiplexed Functional Assessment of Genetic Variants in CARD11-Reference-Cited by-同舟云学术

Multiplexed Functional Assessment of Genetic Variants in CARD11

Published:2020-12 Issue:6 Volume:107 Page:1029-1043
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Meitlis Iana,Allenspach Eric J.,Bauman Bradly M.,Phan Isabelle Q.,Dabbah Gina,Schmitt Erica G.,Camp Nathan D.,Torgerson Troy R.,Nickerson Deborah A.,Bamshad Michael J.,Hagin David,Luthers Christopher R.,Stinson Jeffrey R.,Gray Jessica,Lundgren Ingrid,Church Joseph A.,Butte Manish J.,Jordan Mike B.,Aceves Seema S.,Schwartz Daniella M.,Milner Joshua D.,Schuval Susan,Skoda-Smith Suzanne,Cooper Megan A.,Starita Lea M.,Rawlings David J.,Snow Andrew L.,James Richard G.^ORCID

Funder

National Institute of Allergy and Infectious Diseases

National Cancer Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference49 articles.

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3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

4. The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex;Lu;Front. Immunol.,2018

5. Germline hypomorphic CARD11 mutations in severe atopic disease;Ma;Nat. Genet.,2017

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