Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.D112E
Back to variants list

CANT1

NM_001159773.2:p.D112E

Associated Papers

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Piwar H et al.

International Journal of Molecular Sciences, 2024

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Laccone F et al.

European Journal of Human Genetics : Ejhg, 2011

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."