http://rdf.disgenet.org/nanopublications.trig#NP652044.RAQf8dv5EvFkv_bUCYrD4kEhx5pWUPvoWZAOm3z1yQTok
type: Nanopublication
created: 2014-10-02T12:38:33+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetrdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v2.1.0.0

http://rdf.disgenet.org/nanopublications.trig#NP652044.RAQf8dv5EvFkv_bUCYrD4kEhx5pWUPvoWZAOm3z1yQTok130_assertion
type: Assertion
description: [The lack of different proteins accruing, but the mutant ones at an early age of affected patients in actin filament aggregating myopathy (AFAM) and hyaline body myopathy (HBM), suggests defects in maturation of sarcomeres and failure to integrate the possible mutant proteins, sarcomeric actin and heavy chain myosin in AFAM and HBM, a disturbance of anabolic metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22172423
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetrdf
version: v2.1.0