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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.L4046_L4047Splc

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PKD1

NM_001009944.3:p.L4046_L4047Splc

hg38:chr16:2090669 C>G

Associated Papers

Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.

Rafiee M et al.

Journal of Applied Genetics, 2025

39951171 (PubMed )

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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."