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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.G44Splc

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PKHD1

NM_138694.4:p.G44Splc

hg38:chr6:52083169 C>T

Associated Papers

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Zhang Y et al.

Human Genomics, 2024

39521997 (PubMed )

Supplement: 40246_2024_675_MOESM1_ESM.xlsx › Table_S1.1

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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."