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- source_evidence_literature type ECO_0000212 NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_assertion description "[We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_assertion evidence source_evidence_literature NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_assertion SIO_000772 14608646 NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_assertion wasDerivedFrom befree-20150227 NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_assertion wasGeneratedBy ECO_0000203 NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP672382.RAQvvSvZb89EL6WFDe5EJf8SJZ41xSeJJZtLgzwOPBew4130_provenance.