Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1371080.RAFqCbKxzvKnC5JCWKgEDuRUdHptCr7mvbS1UH8N3cCrk#assertion> ?p ?o ?g. }
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- assertion description "[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." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 23064416 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.