Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion> ?p ?o ?g. }
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- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion type Assertion NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_head.
- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion wasGeneratedBy ECO_0000203 NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_provenance.
- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion wasDerivedFrom befree-20150227 NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_provenance.
- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion SIO_000772 21708223 NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_provenance.
- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion evidence source_evidence_literature NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_provenance.
- NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_assertion description "[Missense mutations of HSD10 may cause neurodegeneration related to HSD10 deficiency, whereas a silent mutation of HSD10 results in mental retardation, choreoathetosis and abnormal behavior (MRXS10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP977335.RAbyYfY_Nf4RwIAst2ZBMYnLksNFYJtnTevL_wMvdvyXQ130_provenance.