Varaico: Literature-Extracted Genetic Variants

Gene:CASP10
Variant:p.L285F
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CASP10

NM_032977.4:p.L285F

Associated Papers

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: A disorder of immune dysregulation.

Paskiewicz A et al.

Autoimmunity Reviews, 2023

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.

Miano M et al.

British Journal of Haematology, 2019

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Tripodi SI et al.

Immunology Letters, 2016

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

Disorders of apoptosis: mechanisms for autoimmunity in primary immunodeficiency diseases.

Oliveira JB et al.

Journal of Clinical Immunology, 2008

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Zhu S et al.

Human Genetics, 2006

Kozak sequence polymorphism in the platelet GPIbalpha gene is not associated with risk of myocardial infarction.

Croft SA et al.

Blood, 2000

The V410I (G1228A) variant of the caspase-10 gene is a common polymorphism of the Danish population.

Grønbaek K et al.

Blood, 2000

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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."