Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion type Assertion NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_head.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_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." NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_provenance.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion evidence source_evidence_literature NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_provenance.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion SIO_000772 24307404 NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_provenance.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion wasDerivedFrom befree-20150227 NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_provenance.
- NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_assertion wasGeneratedBy ECO_0000203 NP356982.RA1H3BPJORnM0tcM8BmkwvzO2vyzeme3v1IwDzZTN6LfQ130_provenance.