Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion type Assertion NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_head.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion description "[Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_provenance.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion evidence source_evidence_literature NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_provenance.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion SIO_000772 19559398 NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_provenance.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion wasDerivedFrom befree-2016 NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_provenance.
- NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_assertion wasGeneratedBy ECO_0000203 NP747808.RAyKyTjT4EoqWK5odlC0ByEHKMT8WFXRtaOMqCeczK1ZQ130_provenance.