Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2186C
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PKD1

NM_001009944.3:p.R2186C

Associated Papers

Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis.

Timberlake AT et al.

Plastic and Reconstructive Surgery, 2022

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T et al.

Plos One, 2015

25646624 (PubMed )
Supplement: pone.0116680.s017.pdf
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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."