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- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion type Assertion NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_head.
- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion description "[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_provenance.
- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion evidence source_evidence_literature NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_provenance.
- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion SIO_000772 18445049 NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_provenance.
- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion wasDerivedFrom befree-2016 NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_provenance.
- NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_assertion wasGeneratedBy ECO_0000203 NP668460.RAUCuNc5AGodyv4npA-LI5VTOM9E37KOsGHV3JKqcZZjw130_provenance.