Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion> ?p ?o ?g. }
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- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion type Assertion NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_head.
- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion description "[Recently, we identified a frameshift mutation in the CDH3 gene encoding P-cadherin as the proximal cause of hypotrichosis with juvenile macular dystrophy in four families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_provenance.
- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion evidence source_evidence_literature NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_provenance.
- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion SIO_000772 12445216 NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_provenance.
- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion wasDerivedFrom befree-20140225 NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_provenance.
- NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_assertion wasGeneratedBy ECO_0000203 NP268147.RAoEu0UG8oNG4Mc74iqwqgLwVKz7flX0pKlVkp3YvCUfs130_provenance.