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PubMed:21194947 JSONTXT 19 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-65 Sentence denotes Variable phenotypes are associated with PMP22 missense mutations.
T1 0-65 Sentence denotes Variable phenotypes are associated with PMP22 missense mutations.
TextSentencer_T2 66-220 Sentence denotes Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders.
T2 66-220 Sentence denotes Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders.
TextSentencer_T3 221-346 Sentence denotes The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene.
T3 221-346 Sentence denotes The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene.
TextSentencer_T4 347-397 Sentence denotes Mutations of PMP22 are a less common cause of CMT.
T4 347-397 Sentence denotes Mutations of PMP22 are a less common cause of CMT.
TextSentencer_T5 398-513 Sentence denotes We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations.
T5 398-513 Sentence denotes We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations.
TextSentencer_T6 514-624 Sentence denotes The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT1.
T6 514-624 Sentence denotes The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT1.
TextSentencer_T7 625-700 Sentence denotes We identified six different point mutations, including two novel mutations.
T7 625-700 Sentence denotes We identified six different point mutations, including two novel mutations.
TextSentencer_T8 701-764 Sentence denotes Three families were also found to harbour a Thr118Met mutation.
T8 701-764 Sentence denotes Three families were also found to harbour a Thr118Met mutation.
TextSentencer_T9 765-1034 Sentence denotes Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.
T9 765-1034 Sentence denotes Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.