Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.L306I
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FAS

NM_000043.6:p.L306I

Associated Papers

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco A et al.

Frontiers in Immunology, 2019

IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome.

Niss O et al.

The Journal of Allergy and Clinical Immunology, 2015

Tumour necrosis factor receptor superfamily member 6 gene mutation detection by denaturing high-performance liquid chromatography.

Etokebe GE et al.

Scandinavian Journal of Immunology, 2004

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

Jackson CE et al.

American Journal of Human Genetics, 1999

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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."