Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.D108G
Back to variants list

FAS

NM_000043.6:p.D108G

Associated Papers

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Pellé O et al.

The Journal of Allergy and Clinical Immunology, 2024

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

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

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

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

Lambotte O et al.

Haematologica, 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

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Neven B et al.

Blood, 2011

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."