Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W1414*
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PKD1

NM_001009944.3:p.W1414*

Associated Papers

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Hosseinpour M et al.

Archives of Iranian Medicine, 2022

37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Bitarafan F et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2019

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.

Bitarafan F et al.

Iranian Journal of Kidney Diseases, 2018

[The molecular genetic analysis of polycystic kidney disease].

Fukuda Y

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1992

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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."