Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[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."@en ?g. }

• NP891806.RABaWSYxXuROVjztG4QYwlJcgjLZRU58W2OJq6GQ52_7Y130_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." NP891806.RABaWSYxXuROVjztG4QYwlJcgjLZRU58W2OJq6GQ52_7Y130_provenance.
• 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.
• NP801994.RAvupbl7W-nGbjP_YMF4fmSt4T9FiR2XqZEXX0J-zPsgc130_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." NP801994.RAvupbl7W-nGbjP_YMF4fmSt4T9FiR2XqZEXX0J-zPsgc130_provenance.
• 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." provenance.
• 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." provenance.
• 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." provenance.
• 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." provenance.
• NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_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." NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_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.
• NP1414800.RARB5knnIfv3iwnCF-OUNetO1z245Lvz0YNhKujq7rv54130_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." NP1414800.RARB5knnIfv3iwnCF-OUNetO1z245Lvz0YNhKujq7rv54130_provenance.
• 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.
• NP411461.RA2Axi0z_O6W15Bh0vMrDNqlbwZqRzujLJr4HLxdJQWYo130_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." NP411461.RA2Axi0z_O6W15Bh0vMrDNqlbwZqRzujLJr4HLxdJQWYo130_provenance.
• NP411379.RAKQTlnJWr4-KAICAZeO6MT49dDFdJTXTqj6AKGpz09Jw130_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." NP411379.RAKQTlnJWr4-KAICAZeO6MT49dDFdJTXTqj6AKGpz09Jw130_provenance.