Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.C104G
Back to variants list

FAS

NM_000043.6:p.C104G

Associated Papers

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

FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome.

de Bielke MG et al.

Journal of Clinical Immunology, 2015

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

Neven B et al.

Blood, 2011

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Magerus-Chatinet A et al.

The Journal of Clinical Investigation, 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."