Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.D3277Splc
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PKHD1

NM_138694.4:p.D3277Splc

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

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.

Harafuji N et al.

Frontiers in Cell and Developmental Biology, 2023

38125876 (PubMed )
Supplement: Table1.xlsx › Supp_Table_S1_ARPKD
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