Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion> ?p ?o ?g. }
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- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion type Assertion NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_head.
- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion description "[Myotubularin (hMTM1), the founder member, is mutated in myotubular myopathy, and a close homolog (hMTMR2) was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_provenance.
- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion evidence source_evidence_literature NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_provenance.
- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion SIO_000772 11275328 NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_provenance.
- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion wasDerivedFrom befree-2016 NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_provenance.
- NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_assertion wasGeneratedBy ECO_0000203 NP312391.RAvaavE1WcPeA0hlGZQ4jYzQQ4C1oeThjl2MxRQ3gxtS0130_provenance.