Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.Q273K
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FAS

NM_000043.6:p.Q273K

Associated Papers

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

Batlle-Masó L et al.

Frontiers in Immunology, 2022

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

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

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

Maurus K et al.

The Journal of Investigative Dermatology, 2018

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Lambotte O et al.

Haematologica, 2013

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."