Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion> ?p ?o ?g. }
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- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion type Assertion NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_head.
- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion description "[Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_provenance.
- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion evidence source_evidence_literature NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_provenance.
- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion SIO_000772 25476608 NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_provenance.
- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion wasDerivedFrom befree-2016 NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_provenance.
- NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_assertion wasGeneratedBy ECO_0000203 NP1244961.RAA_Q1c-AjfeHYbJgKGCct5ceUQvmHqryg6Q3mZ7WGP44130_provenance.