Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion> ?p ?o ?g. }
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- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion type Assertion NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_head.
- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_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." NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_provenance.
- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion evidence source_evidence_literature NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_provenance.
- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion SIO_000772 21954287 NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_provenance.
- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion wasDerivedFrom befree-2016 NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_provenance.
- NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_assertion wasGeneratedBy ECO_0000203 NP927019.RAQOBXCMQ6XpzjJ__vcZuTSX5gcc5jhlqbe9rZasY8diE130_provenance.