Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2182R
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PKD1

NM_001009944.3:p.Q2182R

Associated Papers

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA et al.

Molecular Genetics and Metabolism, 0

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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."