Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.D226Splc
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FAS

NM_000043.6:p.D226Splc

Associated Papers

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.

Xu X et al.

Journal of Clinical Immunology, 2024

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.

Maurus K et al.

The Journal of Investigative Dermatology, 2018

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."