Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion> ?p ?o ?g. }
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- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion type Assertion NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_head.
- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion description "[Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_provenance.
- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion evidence source_evidence_literature NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_provenance.
- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion SIO_000772 23603762 NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_provenance.
- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion wasDerivedFrom befree-20150227 NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_provenance.
- NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_assertion wasGeneratedBy ECO_0000203 NP524158.RAGzf8pBOjibvXltWT3ThDxVEc9k_55RyzHlm0cXoimPk130_provenance.