Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion> ?p ?o ?g. }
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- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion type Assertion NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_head.
- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion description "[Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_provenance.
- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion evidence source_evidence_literature NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_provenance.
- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion SIO_000772 16053902 NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_provenance.
- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion wasDerivedFrom befree-20140225 NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_provenance.
- NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_assertion wasGeneratedBy ECO_0000203 NP802321.RAOm2BP5uX84cl-l72gQbq0GyviDRxSo2jGXS6VsMfzTA130_provenance.