Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.V249L
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FAS

NM_000043.6:p.V249L

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

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

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Neven B et al.

Blood, 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."