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PubMed:23085304 JSONTXT 16 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-90 Sentence denotes 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
T1 0-90 Sentence denotes 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
TextSentencer_T2 91-399 Sentence denotes Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.
T2 91-399 Sentence denotes Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.
TextSentencer_T3 400-525 Sentence denotes 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes.
T3 400-525 Sentence denotes 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes.
TextSentencer_T4 526-614 Sentence denotes Here we report another patient with 5p13 duplication syndrome including NIPBL gene only.
T4 526-614 Sentence denotes Here we report another patient with 5p13 duplication syndrome including NIPBL gene only.
TextSentencer_T5 615-766 Sentence denotes Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications.
T5 615-766 Sentence denotes Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications.
TextSentencer_T6 767-967 Sentence denotes Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.
T6 767-967 Sentence denotes Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.