Varaico: Literature-Extracted Genetic Variants

Gene:FAS
Variant:p.L180F
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FAS

NM_000043.6:p.L180F

Associated Papers

Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Li L et al.

Pathology Oncology Research : Por, 2022

35645619 (PubMed )
Supplement: DataSheet1.xlsx › Supptable_2_Somatic_mutation

The genetic landscape of the FAS pathway deficiencies.

Magerus A et al.

Biomedical Journal, 2021

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L et al.

Critical Reviews in Clinical Laboratory Sciences, 2021

Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.

Ben-Mustapha I et al.

Journal of Leukocyte Biology, 2018

Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome.

Agrebi N et al.

Clinical Immunology (orlando, Fla.), 2017

Structural Basis and Functional Role of Intramembrane Trimerization of the Fas/CD95 Death Receptor.

Fu Q et al.

Molecular Cell, 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."