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- source_evidence_literature type ECO_0000212 NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_assertion description "[A total of eight loci for autosomal dominant hereditary spastic paraplegia (ADHSP) has been mapped to chromosome 14q, 2p, 15q, 8q, 10q, 12q, 19q, 2q, respectively, among which the SPG4 gene on chromosome 2p21-22 encoding spastin, an ATPase of the AAA family, accounts for 40-50% of all ADHSP families and is expressed in both adult and fetal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_assertion evidence source_evidence_literature NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_assertion SIO_000772 12736085 NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_assertion wasDerivedFrom befree-20140225 NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_assertion wasGeneratedBy ECO_0000203 NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP276573.RAlfShc4FOCO6qpzklIK7Vo8VB1KUinTTIFftbh_rI3Q0130_provenance.