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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.Q1610del1

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PKHD1

NM_138694.4:p.Q1610del1

hg38:chr6:52024976 TCTG>T

Associated Papers

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

Ciantar N et al.

European Journal of Medical Genetics, 2024

38537868 (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."