Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion> ?p ?o ?g. }
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- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion type Assertion NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_head.
- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion description "[A heterozygous mutation of the TITF1/NKX2-1 gene (14q13) was detected in both patients, allowing the diagnosis of benign hereditary chorea (BHC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_provenance.
- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion evidence source_evidence_literature NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_provenance.
- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion SIO_000772 25412988 NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_provenance.
- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion wasDerivedFrom befree-2016 NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_provenance.
- NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_assertion wasGeneratedBy ECO_0000203 NP1238954.RAIv7RhWTcuuqbPw3spZFL1mp6qqhr4sb7BuoyWXn2atA130_provenance.