Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.I52T
Back to variants list

CARD11

NM_032415.7:p.I52T

Associated Papers

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

Zhao P et al.

Scientific Reports, 2024

Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11).

Hu W et al.

Journal of Clinical Immunology, 2023

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

Su W et al.

World Journal of Gastroenterology, 2021

Multiplexed Functional Assessment of Genetic Variants in CARD11.

Meitlis I et al.

American Journal of Human Genetics, 2020

33202260 (PubMed )
Supplement: mmc7.xlsx › dmso___LOF_screen__
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."