Varaico: Literature-Extracted Genetic Variants

Gene:FASLG
Variant:p.R156G
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FASLG

NM_000639.3:p.R156G

Associated Papers

Characterizing the regulatory Fas (CD95) epitope critical for agonist antibody targeting and CAR-T bystander function in ovarian cancer.

Mondal T et al.

Cell Death and Differentiation, 2023

The genetic landscape of the FAS pathway deficiencies.

Magerus A et al.

Biomedical Journal, 2021

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

Magerus-Chatinet A et al.

The Journal of Allergy and Clinical Immunology, 2013

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.

Bi LL et al.

Bmc Medical Genetics, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."