Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion> ?p ?o ?g. }
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- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion type Assertion NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_head.
- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion wasGeneratedBy ECO_0000203 NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_provenance.
- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion wasDerivedFrom befree-2016 NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_provenance.
- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion SIO_000772 19932620 NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_provenance.
- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion evidence source_evidence_literature NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_provenance.
- NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_assertion description "[Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP777256.RA5ImJr1X_PP8n7d0GK-Uz5d3wSMyibXgX0Cr2zeDECBU130_provenance.