Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion> ?p ?o ?g. }
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- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion type Assertion NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_head.
- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion description "[We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_provenance.
- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion evidence source_evidence_literature NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_provenance.
- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion SIO_000772 25446406 NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_provenance.
- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion wasDerivedFrom befree-2016 NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_provenance.
- NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_assertion wasGeneratedBy ECO_0000203 NP1242131.RA070JgPs-l5OCFoO_J73sqA-xIWzfvzgoE6JskEPtl4k130_provenance.