Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.P217_E218Splc
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FAS

NM_000043.6:p.P217_E218Splc

Associated Papers

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

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.

Mu Y et al.

Frontiers in Oncology, 2023

37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Rivas-Delgado A et al.

Diagnostics (basel, Switzerland), 2022

35885481 (PubMed )
Supplement: diagnostics-12-01575-s001.zip › Supp_Files › diagnostics-1749759_Supp_Tables_R1.xlsx › Table_S2

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Batlle-Masó L et al.

Frontiers in Immunology, 2022

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

Maurus K et al.

The Journal of Investigative Dermatology, 2018

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.

Janda A et al.

Blood, 2016

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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."