Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.A16delFs
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FAS

NM_000043.6:p.A16delFs

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

Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.

Staniek J et al.

Science Immunology, 2024

38215192 (PubMed )
Supplement: sciimmunol.adj5948_sm.pdf

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Hsu AP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

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."