Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion> ?p ?o ?g. }
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- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion type Assertion NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_head.
- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion description "[Compound heterozygous parkin mutations (EX 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_provenance.
- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion evidence source_evidence_literature NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_provenance.
- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion SIO_000772 17353387 NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_provenance.
- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion wasDerivedFrom befree-20150227 NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_provenance.
- NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_assertion wasGeneratedBy ECO_0000203 NP938920.RAXgEhLQ5qZR7Cdi5A-7PVBjKNhUFvVlXVoNHicZUstrk130_provenance.