Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y1879*
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PKD1

NM_001009944.3:p.Y1879*

Associated Papers

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s017.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."