Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion> ?p ?o ?g. }
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- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion type Assertion NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_head.
- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion description "[An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hypotonia and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_provenance.
- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion evidence source_evidence_literature NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_provenance.
- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion SIO_000772 24569376 NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_provenance.
- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion wasDerivedFrom befree-2016 NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_provenance.
- NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_assertion wasGeneratedBy ECO_0000203 NP1158081.RAYmh1nGERdbR7d0S58f4CMG8-OUziJQXWdnq4gm0pGds130_provenance.