Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion> ?p ?o ?g. }
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- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion type Assertion NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_head.
- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion description "[Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_provenance.
- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion evidence source_evidence_literature NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_provenance.
- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion SIO_000772 24307404 NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_provenance.
- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion wasDerivedFrom befree-2016 NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_provenance.
- NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_assertion wasGeneratedBy ECO_0000203 NP1134075.RAZNBQgJ6mZJjFU7Wa1L5BfAmbhxsZrIlf4ly07WJxVjo130_provenance.