Matches in Nanopublications for { ?s ?p "[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 3 of
3
with 100 items per page.
- NP1230917.RAQXqr7aZynPx1u-OSK2bSX0odFpXKWT8fHHPUQxzoTyE130_assertion description "[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230917.RAQXqr7aZynPx1u-OSK2bSX0odFpXKWT8fHHPUQxzoTyE130_provenance.
- assertion description "[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion description "[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.