Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion> ?p ?o ?g. }
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- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion type Assertion NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_head.
- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_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." NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_provenance.
- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion evidence source_evidence_literature NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_provenance.
- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion SIO_000772 20203473 NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_provenance.
- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion wasDerivedFrom befree-20140225 NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_provenance.
- NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_assertion wasGeneratedBy ECO_0000203 NP441662.RAj52wovA38ntk9L6ItQYS741u40qA-MqOpo7GeMwo83I130_provenance.