Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.T42insFs
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FAS

NM_000043.6:p.T42insFs

Associated Papers

Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS.

Ahn TS et al.

Journal of Clinical Immunology, 2023

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

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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."