PMC:394351 / 131-431
Annnotations
craft-sa-dev
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in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol trafficking characterized by increased plasma plant sterol levels."}
craft-ca-core-ex-dev
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craft-ca-core-dev
{"project":"craft-ca-core-dev","denotations":[{"id":"T85","span":{"begin":28,"end":33},"obj":"SO:0000704"},{"id":"T86","span":{"begin":101,"end":106},"obj":"PR:000003572"},{"id":"T87","span":{"begin":117,"end":127},"obj":"PR:000003572"},{"id":"T88","span":{"begin":133,"end":138},"obj":"PR:000003573"},{"id":"T89","span":{"begin":149,"end":159},"obj":"PR:000003573"},{"id":"T90","span":{"begin":195,"end":204},"obj":"GO:0030849"},{"id":"T91","span":{"begin":227,"end":233},"obj":"CHEBI:15889"},{"id":"T92","span":{"begin":227,"end":245},"obj":"GO:0015918"},{"id":"T93","span":{"begin":273,"end":279},"obj":"UBERON:0001969"},{"id":"T94","span":{"begin":280,"end":285},"obj":"NCBITaxon:3193"},{"id":"T95","span":{"begin":286,"end":292},"obj":"CHEBI:15889"}],"text":"\nMutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol trafficking characterized by increased plasma plant sterol levels."}