Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion type Assertion NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_head.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_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." NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_provenance.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion evidence source_evidence_literature NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_provenance.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion SIO_000772 25474699 NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_provenance.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion wasDerivedFrom befree-2016 NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_provenance.
- NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_assertion wasGeneratedBy ECO_0000203 NP1244829.RAB86iqDv49I42gtiQEizjYl7u91j4UMQEwuJRFrbuMJs130_provenance.