Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion> ?p ?o ?g. }
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- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion type Assertion NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_head.
- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_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." NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_provenance.
- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion evidence source_evidence_curated NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_provenance.
- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion SIO_000772 23603762 NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_provenance.
- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion wasDerivedFrom ctd_human-20130708 NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_provenance.
- NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_assertion wasGeneratedBy ECO_0000218 NP33144.RAsQhn6wSiqpNtX4fNTJOvkP8XR6Lulxr_uWQnuTjDXqM130_provenance.