Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1149377.RAgWAFeyNLBOYt_KrSuL36qvtqYFNAdzn-C47kAnZAepw#assertion> ?p ?o ?g. }
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- assertion description "[Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21954287 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.