Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion type Assertion NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_head.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion description "[Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_provenance.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion evidence source_evidence_literature NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_provenance.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion SIO_000772 17478476 NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_provenance.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion wasDerivedFrom befree-2016 NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_provenance.
- NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_assertion wasGeneratedBy ECO_0000203 NP608101.RADpD8YqxYjN1royukP0J47kZOAq8yPivhJPmCburDV4E130_provenance.