Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion type Assertion NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_head.
- 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.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion evidence source_evidence_literature NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion SIO_000772 22715480 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion wasDerivedFrom befree-2016 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion wasGeneratedBy ECO_0000203 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.