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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.N1950_G1951insFs

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PKHD1

NM_138694.4:p.N1950_G1951insFs

hg38:chr6:51959927 C>CAATGA

Associated Papers

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations.

Zhao J et al.

Frontiers in Medicine, 2026

41728609 (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."