Matches in Nanopublications for { ?s ?p "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP360368.RA1uWJKLmlDBzSOjdIjmTSfvpMoDGmqZKRMtAi8z-bdgM130_provenance.
- NP581482.RAJ-hM0foaC1RnPZtSfcfNo-B4adPvKsKkIy3liXeKX98130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP581482.RAJ-hM0foaC1RnPZtSfcfNo-B4adPvKsKkIy3liXeKX98130_provenance.
- assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP604252.RAjE0yRGKdHyrZ4GMh80HpTKgC3iSbmWdkd3FrxcMGZE0130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604252.RAjE0yRGKdHyrZ4GMh80HpTKgC3iSbmWdkd3FrxcMGZE0130_provenance.