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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.V3263V

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PKHD1

NM_138694.4:p.V3263V

hg38:chr6:51747827 C>A

Associated Papers

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.

Sun Q et al.

Npj Genomic Medicine, 2025

40069205 (PubMed )

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