Varaico: Literature-Extracted Genetic Variants

Gene:CASP10
Variant:p.P501L
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CASP10

NM_032977.4:p.P501L

Associated Papers

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.

Palmeri S et al.

Journal of Clinical Immunology, 2025

41249727 (PubMed )
Supplement: 10875_2025_1958_MOESM1_ESM.docx

Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.

Consonni F et al.

Cell Death & Disease, 2024

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

Tadaki H et al.

International Journal of Immunogenetics, 2011

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

Cerutti E et al.

Bmc Immunology, 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."