Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.
- 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." provenance.
- NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_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." NP1232333.RA-PhORspctTEbL6b2z0W0aJZ2pVFB9MjK11Kvj-v6T-A130_provenance.