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- source_evidence_literature type ECO_0000212 NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_assertion wasGeneratedBy ECO_0000203 NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_assertion wasDerivedFrom gad-20130706 NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_assertion SIO_000772 14584882 NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_assertion evidence source_evidence_literature NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_assertion description "[ In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis. The remaining five cases were heterozygous for a ClCN7 mutation, including two brothers from a large family with a history of ADO-II in which the presence of a second ClCN7 mutation was formally excluded. Despite an early and severe clinical presentation, these five patients all reached adulthood, suggesting that the degree of dominant interference with chloride channel function can vary widely. Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms. These findings have prognostic implications, might complicate prenatal diagnosis of human osteopetroses, and could be relevant to the management of these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.
- gad-20130706 importedOn "2013-07-06" NP50770.RAM5d7JWqstdehI6GC71dCKaOytz9Pw0-rOaUJLwPcDFA130_provenance.