Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion type Assertion NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_head.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion description "[Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_provenance.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion evidence source_evidence_literature NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_provenance.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion SIO_000772 20203473 NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_provenance.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion wasDerivedFrom befree-20140225 NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_provenance.
- NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_assertion wasGeneratedBy ECO_0000203 NP730041.RAHnMm9FII6Co3y9TpbEL6TjbPcV7zV1Q4-idfZKGKusQ130_provenance.