Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.A37Splc
Back to variants list

CTLA4

NM_005214.5:p.A37Splc

Associated Papers

Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.

Sanchez DA et al.

Frontiers in Immunology, 2023

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A et al.

American Journal of Medical Genetics. Part A, 2007

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."