Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion> ?p ?o ?g. }
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- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion type Assertion NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_head.
- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion wasGeneratedBy ECO_0000203 NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_provenance.
- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion wasDerivedFrom befree-2016 NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_provenance.
- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion SIO_000772 16237566 NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_provenance.
- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion evidence source_evidence_literature NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_provenance.
- NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_assertion description "[Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518757.RA0ctG8Vr9MfpMgtYxs-vAjNHog8NukNnhTgxh3d74cLA130_provenance.