Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R2881Splc
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PKHD1

NM_138694.4:p.R2881Splc

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

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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