Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.E218fs
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FAS

NM_000043.6:p.E218fs

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

Panel Sequencing of Primary Cutaneous B-Cell Lymphoma.

Wobser M et al.

Cancers, 2022

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.

López-Nevado M et al.

Frontiers in Immunology, 2021

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.

Maurus K et al.

The Journal of Investigative Dermatology, 2018

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."