Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2467delFs
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PKD1

NM_001009944.3:p.P2467delFs

Associated Papers

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Yilmaz K et al.

Frontiers in Pediatrics, 2024

38464892 (PubMed )
Supplement: Table1.xlsx › Sayfa1

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.

Yavaş C et al.

Revista Da Associacao Medica Brasileira (1992), 2022

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM et al.

Human Mutation, 2017

28378423 (PubMed )
Supplement: HUMU-38-870-s001.pdf
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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."