Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.D1165G
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PKD1

NM_001009944.3:p.D1165G

Associated Papers

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Frank MSB et al.

Human Genomics, 2025

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M3

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-1.xlsx › M3

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Chang AR et al.

Jama, 2022

Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.

Thomas CP et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2021

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Mallawaarachchi AC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."