Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.E256G
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FAS

NM_000043.6:p.E256G

Associated Papers

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.

Xu X et al.

Journal of Clinical Immunology, 2024

The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.

Straus SE et al.

Blood, 2001

Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.

Peters AM et al.

Experimental Hematology, 1999

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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."