PMC:1892049 / 1012-1371
Annnotations
craft-ca-core-ex-dev
{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T860","span":{"begin":33,"end":38},"obj":"PR_EXT:000009158"},{"id":"T861","span":{"begin":39,"end":45},"obj":"SO_EXT:sequence_altered_entity_or_alteration_process"},{"id":"T862","span":{"begin":46,"end":50},"obj":"NCBITaxon:10088"},{"id":"T863","span":{"begin":117,"end":125},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T864","span":{"begin":129,"end":134},"obj":"PR_EXT:000009158"},{"id":"T865","span":{"begin":193,"end":201},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T866","span":{"begin":212,"end":219},"obj":"_FRAGMENT"},{"id":"T867","span":{"begin":230,"end":234},"obj":"SO_EXT:0000831"},{"id":"T868","span":{"begin":224,"end":229},"obj":"PR_EXT:000009158"},{"id":"T869","span":{"begin":249,"end":254},"obj":"SO_EXT:0000147"},{"id":"T870","span":{"begin":322,"end":328},"obj":"NCBITaxon:9606"}],"relations":[{"id":"R2","pred":"_lexicallyChainedTo","subj":"T867","obj":"T866"}],"text":"ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15. We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans.\n\nAuthor Summary\n\nWe have iden"}
craft-ca-core-dev
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craft-sa-dev
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We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans.\n\nAuthor Summary\n\nWe have iden"}
Biotea
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is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15. We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans.\n\nAuthor Summary\n\nWe have iden"}