Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1149330.RAkw6zOVsvRuuhFjBoNVpTis83m8Q63oPMkHZJpCDp_3c#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22452838 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.