Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion> ?p ?o ?g. }
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- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion type Assertion NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_head.
- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion description "[Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_provenance.
- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion evidence source_evidence_literature NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_provenance.
- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion SIO_000772 21932316 NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_provenance.
- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion wasDerivedFrom befree-20150227 NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_provenance.
- NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_assertion wasGeneratedBy ECO_0000203 NP844387.RA-IOSpE37gb_UhZcAGxm14DYY09QiViGcxh7cZssBBRY130_provenance.