Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.H111R
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FAS

NM_000043.6:p.H111R

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

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

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

Batlle-Masó L et al.

Frontiers in Immunology, 2022

Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.

Hafezi N et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

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 novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.

Baker TS et al.

Blood Advances, 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

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."