Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.V2950I
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PKHD1

NM_138694.4:p.V2950I

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S10

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Gezgin Y et al.

Turkish Journal of Medical Sciences, 2024

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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."