Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion> ?p ?o ?g. }
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- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion type Assertion NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_head.
- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion description "[Mutations in DYNC1H1 are associated with spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_provenance.
- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion evidence source_evidence_literature NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_provenance.
- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion SIO_000772 25512093 NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_provenance.
- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion wasDerivedFrom befree-2016 NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_provenance.
- NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_assertion wasGeneratedBy ECO_0000203 NP1248405.RAk8iX3gr0fR-1GM4WtYYb27TXl4_KPqUD8sgbGYuac1c130_provenance.