Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion> ?p ?o ?g. }
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- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion type Assertion NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_head.
- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion description "[In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectodermal dysplasia, reaching from apparently monosymptomatic severe oligodontia to Sch�pf-Schulz-Passarge syndrome, which is so far considered a unique entity by the findings of numerous cysts along eyelid margins and the increased risk of benign and malignant skin tumors; (2) WNT10A mutations are a frequent cause of ectodermal dysplasia and were found in about 9% of an unselected patient cohort; (3) about half of the heterozygotes (53.8%) show a phenotype manifestation, including mainly tooth and nail anomalies, which was not reported before in OODD; and (4) heterozygotes show a sex-biased manifestation pattern, with a significantly higher proportion of tooth anomalies in males than in females, which may implicate gender-specific differences of WNT10A expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_provenance.
- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion evidence source_evidence_literature NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_provenance.
- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion SIO_000772 19559398 NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_provenance.
- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion wasDerivedFrom befree-20140225 NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_provenance.
- NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_assertion wasGeneratedBy ECO_0000203 NP834742.RAQ0Eo4tvUrCzPGDApV44-vhjWAq4A6gcwF06HHkz5_c8130_provenance.