Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion> ?p ?o ?g. }
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- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion type Assertion NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_head.
- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion description "[Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_provenance.
- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion evidence source_evidence_literature NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_provenance.
- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion SIO_000772 22132097 NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_provenance.
- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion wasDerivedFrom befree-20140225 NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_provenance.
- NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_assertion wasGeneratedBy ECO_0000203 NP409502.RAdjh-NGg0Jtdp0C7Ofa2weJsdiMCBxBMBM-e8fK9jDiY130_provenance.