Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion> ?p ?o ?g. }
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- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion type Assertion NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_head.
- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_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." NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_provenance.
- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion evidence source_evidence_literature NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_provenance.
- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion SIO_000772 9989622 NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_provenance.
- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion wasDerivedFrom befree-20140225 NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_provenance.
- NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_assertion wasGeneratedBy ECO_0000203 NP307324.RAtPb5CkQMfW_pBer3543yScJn9xe0tNnARyLtRpJnay4130_provenance.