Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion> ?p ?o ?g. }
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- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion type Assertion NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_head.
- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_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." NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_provenance.
- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion evidence source_evidence_literature NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_provenance.
- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion SIO_000772 22132097 NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_provenance.
- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion wasDerivedFrom befree-2016 NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_provenance.
- NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_assertion wasGeneratedBy ECO_0000203 NP943145.RAeEQwWFN8aRkYueYLjhuxWENn2U29limpYrUoX5pJqOU130_provenance.