Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2833S
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PKD1

NM_001009944.3:p.P2833S

Associated Papers

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

Ciantar N et al.

European Journal of Medical Genetics, 2024

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Schönauer R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated

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."