Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1975*
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PKD1

NM_001009944.3:p.Q1975*

Associated Papers

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Cristalli CP et al.

Genes, 2025

40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2

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

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.

Lazaro-Guevara J et al.

American Journal of Nephrology, 2021

High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bataille S et al.

Bmc Nephrology, 2011

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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."