Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion type Assertion NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_head.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion description "[A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_provenance.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion evidence source_evidence_literature NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_provenance.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion SIO_000772 21426321 NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_provenance.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion wasDerivedFrom befree-2016 NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_provenance.
- NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_assertion wasGeneratedBy ECO_0000203 NP881484.RA6UbWV-pmXkmmXUz9QQFoWgKVtSnDnBFgzYMQqnbUlmg130_provenance.