Varaico: Literature-Extracted Genetic Variants

Gene:C2CD3
Variant:p.T2079M
Back to variants list

C2CD3

NM_001286577.2:p.T2079M

Associated Papers

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Sentell ZT et al.

Human Molecular Genetics, 2025

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.

Khan N et al.

Genetic Testing and Molecular Biomarkers, 2020

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."