PubMed:9028321 / 554-730
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":176},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":176},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB3","span":{"begin":32,"end":36},"obj":"ORDO:3261"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBIDiseaseCorpus
{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease:D056735"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-gpt-r-ng
{"project":"ncbi-valid-gpt-r-ng","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-gpt-r-g
{"project":"ncbi-valid-gpt-r-g","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-gpt-nr-g
{"project":"ncbi-valid-gpt-nr-g","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid
{"project":"ncbi-valid","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-gpt-nr-ng
{"project":"ncbi-valid-gpt-nr-ng","denotations":[{"id":"T5","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-deepseek-nr-ng
{"project":"ncbi-valid-deepseek-nr-ng","denotations":[{"id":"T11","span":{"begin":89,"end":107},"obj":"Modifier"},{"id":"T12","span":{"begin":166,"end":175},"obj":"DiseaseClass"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-deepseek-r-g
{"project":"ncbi-valid-deepseek-r-g","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-gpt-r-m
{"project":"ncbi-valid-gpt-r-m","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
ncbi-valid-deepseek-r-m
{"project":"ncbi-valid-deepseek-r-m","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Develop
{"project":"NCBI-Disease-Develop","denotations":[{"id":"T420","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"attributes":[{"id":"A420","pred":"database_id","subj":"T420","obj":"D056735"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Corpus-All
{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T420","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"attributes":[{"id":"A420","pred":"database_id","subj":"T420","obj":"D056735"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Corpus-2stage-All
{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T5","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Corpus-rezarta-All
{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T4","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Corpus-4oGuideline-All
{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T3","span":{"begin":32,"end":36},"obj":"SpecificDisease"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}
NCBI-Disease-Corpus-Simple-All
{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T6","span":{"begin":32,"end":36},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":166,"end":175},"obj":"DiseaseClass"}],"text":"We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis."}