Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion> ?p ?o ?g. }
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- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion type Assertion NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_head.
- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion wasGeneratedBy ECO_0000203 NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_provenance.
- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion wasDerivedFrom befree-20150227 NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_provenance.
- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion SIO_000772 14561704 NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_provenance.
- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion evidence source_evidence_literature NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_provenance.
- NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_assertion description "[We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP806425.RA7kWD2XvEY_Lc0sAGdC2fO-Gm12jd6ejBj2VzZPO-ES4130_provenance.