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- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_assertion type Assertion NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_head.
- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_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." NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_provenance.
- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_assertion evidence source_evidence_literature NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_provenance.
- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_assertion SIO_000772 9989622 NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_provenance.
- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_assertion wasDerivedFrom befree-2016 NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_provenance.
- NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_assertion wasGeneratedBy ECO_0000203 NP1414801.RABOW7hMZtHx7s-A_kRId75dN00hpHm7wV-db4UCs0Dd4130_provenance.