Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.Q47*
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FAS

NM_000043.6:p.Q47*

Associated Papers

Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.

Consonni F et al.

Cell Death & Disease, 2024

38704374 (PubMed )
Supplement: 41419_2024_6679_MOESM1_ESM.pdf

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

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

Cerutti E et al.

Bmc Immunology, 2007

The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.

Campagnoli MF et al.

Haematologica, 2006

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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."