Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.L729fs
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PKD2

NM_000297.4:p.L729fs

Associated Papers

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.

Bakis H et al.

Clinical Genetics, 2020

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.

Raj S et al.

Journal of Genetics, 2017

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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."