Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion> ?p ?o ?g. }
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- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion type Assertion NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_head.
- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_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." NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_provenance.
- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion evidence source_evidence_literature NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_provenance.
- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion SIO_000772 23603762 NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_provenance.
- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion wasDerivedFrom befree-20150227 NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_provenance.
- NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_assertion wasGeneratedBy ECO_0000203 NP762035.RA6413UPuRa3ba4oMaQK9IFdPSaHsBOObS0q_1sZcz0uQ130_provenance.