Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion> ?p ?o ?g. }
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- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion type Assertion NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_head.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion evidence source_evidence_literature NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion SIO_000772 14581620 NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion wasDerivedFrom befree-2016 NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion wasGeneratedBy ECO_0000203 NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.