Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1440del1
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PKD1

NM_001009944.3:p.S1440del1

Associated Papers

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

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Schönauer R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Berckmoes V et al.

Human Reproduction (oxford, England), 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."