Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W1839C
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PKD1

NM_001009944.3:p.W1839C

Associated Papers

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

Kimura T et al.

Biomolecules, 2023

37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.

Ambrosini E et al.

Genes, 2023

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E et al.

Journal of the American Society of Nephrology : Jasn, 2018

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP et al.

Journal of the American Society of Nephrology : Jasn, 2016

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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."