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PubMed:22104738 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
T1 0-89 Sentence denotes Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
TextSentencer_T2 90-306 Sentence denotes A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.
T2 90-306 Sentence denotes A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.
TextSentencer_T3 307-595 Sentence denotes Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother.
T3 307-595 Sentence denotes Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother.
TextSentencer_T4 596-704 Sentence denotes The missense mutation (c.920T>G) was not found in 100 healthy controls and has not been reported previously.
T4 596-704 Sentence denotes The missense mutation (c.920T>G) was not found in 100 healthy controls and has not been reported previously.
TextSentencer_T5 705-813 Sentence denotes Our findings expand the number of reported cases and add a novel entry to the repertoire of MLYCD mutations.
T5 705-813 Sentence denotes Our findings expand the number of reported cases and add a novel entry to the repertoire of MLYCD mutations.