Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.G253V
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FAS

NM_000043.6:p.G253V

Associated Papers

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

Synthetic receptor platform to identify loss-of-function single nucleotide variants and designed mutants in the death receptor Fas/CD95.

Minafra AR et al.

The Journal of Biological Chemistry, 2023

Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.

Gaefke CL et al.

Frontiers in Pediatrics, 2021

Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.

Ben-Mustapha I et al.

Journal of Leukocyte Biology, 2018

The expanding spectrum of the autoimmune lymphoproliferative syndromes.

Oliveira JB

Current Opinion in Pediatrics, 2013

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS et al.

Journal of Immunology (baltimore, Md. : 1950), 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."