Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.E272G
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FAS

NM_000043.6:p.E272G

Associated Papers

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Pellé O et al.

The Journal of Allergy and Clinical Immunology, 2024

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

Clinicopathologic and Genetic Features of Primary T-cell Lymphomas of the Central Nervous System: An Analysis of 11 Cases Using Targeted Gene Sequencing.

Yim J et al.

The American Journal of Surgical Pathology, 2022

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Batlle-Masó L et al.

Frontiers in Immunology, 2022

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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."