Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_assertion description "[In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_assertion evidence source_evidence_literature NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_assertion SIO_000772 9989622 NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_assertion wasDerivedFrom befree-2016 NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_assertion wasGeneratedBy ECO_0000203 NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.
- befree-2016 importedOn "2016-02-19" NP1414798.RAaL9bsLs15FQt96imAHFYnNhax1bTtvpmGctxoXTdGko130_provenance.