Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W1669_R1670del2
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PKD1

NM_001009944.3:p.W1669_R1670del2

Associated Papers

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

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

Ciantar N et al.

European Journal of Medical Genetics, 2024

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Kim H et al.

Scientific Reports, 2019

31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.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."