Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion> ?p ?o ?g. }
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- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion type Assertion NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_head.
- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion description "[Background/Aims: Mutations in the HESX1 gene are associated with a broad spectrum of phenotypes: septo-optic dysplasia, midline defects, pituitary abnormalities with consequent hypopituitarism, isolated growth hormone (GH) deficiency or combined pituitary hormone deficiencies (CPHD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_provenance.
- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion evidence source_evidence_literature NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_provenance.
- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion SIO_000772 19844116 NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_provenance.
- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion wasDerivedFrom befree-20140225 NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_provenance.
- NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_assertion wasGeneratedBy ECO_0000203 NP727089.RA4s7d_y2ayIq4SHTgpR42hX7PQlFnqRRvrd1tIZrEYDg130_provenance.