Associated Papers
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
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Genes, 2026
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
He QY et al.
Bioinformatics (oxford, England), 2006
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Adeva M et al.
Medicine, 2006
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Furu L et al.
Journal of the American Society of Nephrology : Jasn, 2003
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