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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKHD1

Variant:p.R2955G

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PKHD1

NM_138694.4:p.R2955G

hg38:chr6:51753288 G>C

Associated Papers

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.

Bitarafan F et al.

Iranian Journal of Kidney Diseases, 2018

30595564 (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."