Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.L125P
Back to variants list

CLDN16

NM_006580.4:p.L125P

Associated Papers

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.

Thapa R et al.

Calcified Tissue International, 2024

Clinical utility of genetic testing in Indian children with kidney diseases.

Saha A et al.

Bmc Nephrology, 2023

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."