Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.C107Y
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FAS

NM_000043.6:p.C107Y

Associated Papers

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS).

Wu Q et al.

Journal of Clinical Immunology, 2024

The genetic landscape of the FAS pathway deficiencies.

Magerus A et al.

Biomedical Journal, 2021

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L et al.

Critical Reviews in Clinical Laboratory Sciences, 2021

Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS).

Li P et al.

Clinical Reviews in Allergy & Immunology, 2016

FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome.

de Bielke MG et al.

Journal of Clinical Immunology, 2015

A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.

Simesen de Bielke MG et al.

Journal of Clinical Immunology, 2012

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Magerus-Chatinet A et al.

The Journal of Clinical Investigation, 2011

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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."