PMC:1892049 / 14357-14708
Annnotations
craft-ca-core-ex-dev
{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T6241","span":{"begin":12,"end":22},"obj":"UBERON:0002037"},{"id":"T6242","span":{"begin":53,"end":58},"obj":"PR_EXT:000015827"},{"id":"T6243","span":{"begin":59,"end":64},"obj":"PR_EXT:000009158"},{"id":"T6244","span":{"begin":65,"end":73},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T6245","span":{"begin":84,"end":92},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T6246","span":{"begin":203,"end":211},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T6247","span":{"begin":226,"end":233},"obj":"SO_EXT:0000704"}],"text":" With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the two British families as well as the original Australian family."}
craft-ca-core-dev
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craft-sa-dev
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