Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1116*
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PKD1

NM_001009944.3:p.Q1116*

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

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

Genetic Analysis of Severe Polycystic Liver Disease in Japan.

Mizuno H et al.

Kidney360, 2024

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

García Rabaneda C et al.

Journal of Clinical Medicine, 2024

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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."