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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.P3067_E3068Splc

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PKD1

NM_001009944.3:p.P3067_E3068Splc

hg38:chr16:2102380 C>G

Associated Papers

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

Li Z et al.

Nephrology (carlton, Vic.), 2025

41083429 (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."