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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD2

Variant:p.F310fs

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PKD2

NM_000297.4:p.F310fs

hg38:chr4:88038335 TTC>N

Associated Papers

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Orisio S et al.

Nephron, 2024

37231942 (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."