PMC:1189073 / 7127-7467 JSONTXT

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    craft-ca-core-ex-dev

    {"project":"craft-ca-core-ex-dev","denotations":[{"id":"T8418","span":{"begin":131,"end":144},"obj":"SO_EXT:coding_sequence"},{"id":"T8435","span":{"begin":22,"end":26},"obj":"NCBITaxon:10088"},{"id":"T8436","span":{"begin":47,"end":52},"obj":"SO_EXT:0000704"},{"id":"T8437","span":{"begin":54,"end":63},"obj":"GO:0030849"},{"id":"T8438","span":{"begin":89,"end":93},"obj":"PR_EXT:000004182"},{"id":"T8439","span":{"begin":106,"end":110},"obj":"SO_EXT:0000704"},{"id":"T8440","span":{"begin":126,"end":130},"obj":"PR_EXT:000004182"},{"id":"T8441","span":{"begin":157,"end":161},"obj":"NCBITaxon:10088"},{"id":"T8442","span":{"begin":175,"end":182},"obj":"CHEBI_EXT:thymine_nucleobase_or_nucleoside_or_nucleotide_molecular_entity_or_group"},{"id":"T8443","span":{"begin":175,"end":193},"obj":"_FRAGMENT"},{"id":"T8444","span":{"begin":203,"end":215},"obj":"SO_EXT:1000022"},{"id":"T8445","span":{"begin":186,"end":193},"obj":"CHEBI_EXT:guanine_nucleobase_or_nucleoside_or_nucleotide_molecular_entity_or_group"},{"id":"T8446","span":{"begin":195,"end":196},"obj":"CHEBI_EXT:thymine_nucleobase_or_nucleoside_or_nucleotide_molecular_entity_or_group"},{"id":"T8447","span":{"begin":195,"end":201},"obj":"_FRAGMENT"},{"id":"T8448","span":{"begin":200,"end":201},"obj":"CHEBI_EXT:guanine_nucleobase_or_nucleoside_or_nucleotide_molecular_entity_or_group"},{"id":"T8449","span":{"begin":261,"end":267},"obj":"CHEBI_SO_EXT:valine"},{"id":"T8450","span":{"begin":272,"end":285},"obj":"CHEBI_SO_EXT:phenylalanine"},{"id":"T8451","span":{"begin":286,"end":298},"obj":"SO_EXT:sequence_substitution_entity_or_process"},{"id":"T8452","span":{"begin":302,"end":312},"obj":"CHEBI_SO_EXT:amino_acid"},{"id":"T8453","span":{"begin":324,"end":331},"obj":"CHEBI_PR_EXT:protein"}],"relations":[{"id":"R912","pred":"_lexicallyChainedTo","subj":"T8444","obj":"T8443"},{"id":"R913","pred":"_lexicallyChainedTo","subj":"T8444","obj":"T8447"}],"text":"The disorder in these mice segregated in a monogenic, autosomal recessive manner, making Aqp2 a candidate gene. Sequencing of Aqp2 coding region of affected mice identified a thymine to guanine (T to G) transversion (Figure 1A), which is predicted to lead to a valine for phenylalanine substitution at amino acid 204 of the protein (F204V)."}

    craft-ca-core-dev

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    craft-sa-dev

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disorder in these mice segregated in a monogenic, autosomal recessive manner, making Aqp2 a candidate gene. Sequencing of Aqp2 coding region of affected mice identified a thymine to guanine (T to G) transversion (Figure 1A), which is predicted to lead to a valine for phenylalanine substitution at amino acid 204 of the protein (F204V)."}