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- source_evidence_literature type ECO_0000212 NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_assertion description "[CMD biochemical types include various abnormalities of alpha-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-alpha(2) and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_assertion evidence source_evidence_literature NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_assertion SIO_000772 20425232 NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_assertion wasDerivedFrom befree-2016 NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_assertion wasGeneratedBy ECO_0000203 NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.
- befree-2016 importedOn "2016-02-19" NP808770.RABczdABO6fWO7pqifeGY09V91Auy1YIH7_Rs93eachVY130_provenance.