. . . . . . . . . . . . "[A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations inferred from animal model manually asserted gene-disease associations."@en . "DisGeNET evidence - PREDICTED"@en . "2015-08-25T14:38:06+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .