. . . . . . . "[In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function mutations in AAGAB, encoding ?- and ?-adaptin-binding protein p34, located at a previously linked locus at 15q22.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:18:54+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .