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PubMed:23587593 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-61 Sentence denotes Identification of a cystic fibrosis mutation W19X in Tunisia.
TextSentencer_T2 62-154 Sentence denotes Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance.
TextSentencer_T3 155-252 Sentence denotes It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR).
TextSentencer_T4 253-333 Sentence denotes The frequencies of mutations vary according to the ethnic origin of populations.
TextSentencer_T5 334-391 Sentence denotes We describe in this study a patient with cystic fibrosis.
TextSentencer_T6 392-533 Sentence denotes She was homozygous for a new nonsense mutation identified for the first time in Tunisia: W19X, which expected to cause significant morbidity.
TextSentencer_T7 534-652 Sentence denotes This mutation appears to be specific to Tunisian population, although, it has identified only in CF Tunisian patients.
TextSentencer_T8 653-806 Sentence denotes The information provided by our study contributes to defining the molecular spectrum of CF in Tunisia, to improve genetic testing and prenatal diagnosis.
T1 0-61 Sentence denotes Identification of a cystic fibrosis mutation W19X in Tunisia.
T2 62-154 Sentence denotes Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance.
T3 155-252 Sentence denotes It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR).
T4 253-333 Sentence denotes The frequencies of mutations vary according to the ethnic origin of populations.
T5 334-391 Sentence denotes We describe in this study a patient with cystic fibrosis.
T6 392-533 Sentence denotes She was homozygous for a new nonsense mutation identified for the first time in Tunisia: W19X, which expected to cause significant morbidity.
T7 534-652 Sentence denotes This mutation appears to be specific to Tunisian population, although, it has identified only in CF Tunisian patients.
T8 653-806 Sentence denotes The information provided by our study contributes to defining the molecular spectrum of CF in Tunisia, to improve genetic testing and prenatal diagnosis.

Allie

Id Subject Object Predicate Lexical cue
SS1_23587593_1_0 62-77 expanded denotes Cystic fibrosis
SS2_23587593_1_0 79-81 abbr denotes CF
SS1_23587593_2_0 188-244 expanded denotes cystic fibrosis transmembrane conductance regulator gene
SS2_23587593_2_0 246-250 abbr denotes CFTR
AE1_23587593_1_0 SS1_23587593_1_0 SS2_23587593_1_0 abbreviatedTo Cystic fibrosis,CF
AE1_23587593_2_0 SS1_23587593_2_0 SS2_23587593_2_0 abbreviatedTo cystic fibrosis transmembrane conductance regulator gene,CFTR

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 122-153 HP_0000007 denotes autosomal recessive inheritance
T2 122-141 HP_0000007 denotes autosomal recessive

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 62-77 ORDO:586 denotes Cystic fibrosis
TI1 20-35 ORDO:586 denotes cystic fibrosis
AB2 188-203 ORDO:586 denotes cystic fibrosis
AB3 375-390 ORDO:586 denotes cystic fibrosis