Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion> ?p ?o ?g. }
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- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion type Assertion NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_head.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion description "[We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (IGHD), cleft palate, and optic disc cupping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion evidence source_evidence_literature NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion SIO_000772 25342853 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion wasDerivedFrom befree-20150227 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion wasGeneratedBy ECO_0000203 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.