Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion> ?p ?o ?g. }
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- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion type Assertion NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_head.
- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion description "[Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_provenance.
- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion evidence source_evidence_literature NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_provenance.
- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion SIO_000772 22585566 NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_provenance.
- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion wasDerivedFrom befree-20150227 NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_provenance.
- NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_assertion wasGeneratedBy ECO_0000203 NP835571.RAL50lvp8d5STy4z0qL_McX64QvqQHSo-DoM83F-680aU130_provenance.