Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y4040*
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PKD1

NM_001009944.3:p.Y4040*

Associated Papers

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Carss KJ et al.

Circulation. Genomic and Precision Medicine, 2020

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

32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx
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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."