Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L371_H372insFs
Back to variants list

CAT

NM_001752.4:p.L371_H372insFs

Associated Papers

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Tornovsky S et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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."