Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion> ?p ?o ?g. }
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- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion type Assertion NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_head.
- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion description "[A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_provenance.
- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion evidence source_evidence_literature NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_provenance.
- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion SIO_000772 25474699 NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_provenance.
- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion wasDerivedFrom befree-2016 NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_provenance.
- NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_assertion wasGeneratedBy ECO_0000203 NP1244830.RA6atJFaDsUo-p2g55PvcB97dOv0K2XAK5uMQnw8saYp0130_provenance.