Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.I262T
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FAS

NM_000043.6:p.I262T

Associated Papers

Installation of Dominant-Negative Mutations in FAS and TGFβR2 via Base Editing in Primary T Cells.

Wick BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41000687 (PubMed )
Supplement: media-1.pdf

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM22_ESM.xlsx › Tabelle3

A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.

Baker TS et al.

Blood Advances, 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

Successful treatment of autoimmune lymphoproliferative syndrome and refractory autoimmune thrombocytopenic purpura with a reduced intensity conditioning stem cell transplantation followed by donor lymphocyte infusion.

Dimopoulou MN et al.

Bone Marrow Transplantation, 2007

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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."