PMC:1183529 / 756-950
Annnotations
craft-ca-core-dev
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Biotea
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a truncated protein. Human autopsy cases with diaphragmatic defect and pulmonary hypoplasia were evaluated for mutations in FOG2. Sequence analysis revealed a de novo mutation resulting in "}
craft-ca-core-ex-dev
{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T970","span":{"begin":7,"end":16},"obj":"SO_EXT:sequence_truncation_process"},{"id":"T971","span":{"begin":17,"end":24},"obj":"CHEBI_PR_EXT:protein"},{"id":"T972","span":{"begin":26,"end":31},"obj":"NCBITaxon:9606"},{"id":"T973","span":{"begin":51,"end":64},"obj":"UBERON:0001103"},{"id":"T974","span":{"begin":76,"end":85},"obj":"UBERON:0002048"},{"id":"T975","span":{"begin":116,"end":125},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T976","span":{"begin":129,"end":133},"obj":"PR_EXT:000017653"},{"id":"T977","span":{"begin":135,"end":143},"obj":"SO_EXT:biological_sequence"},{"id":"T978","span":{"begin":172,"end":180},"obj":"SO_EXT:sequence_alteration_entity_or_process"}],"text":"ding a truncated protein. Human autopsy cases with diaphragmatic defect and pulmonary hypoplasia were evaluated for mutations in FOG2. Sequence analysis revealed a de novo mutation resulting in "}
craft-sa-dev
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