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Q46032709-211E194C-9620-4DAE-A64D-1980828DB724
Q46032709-211E194C-9620-4DAE-A64D-1980828DB724
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46032709-211E194C-9620-4DAE-A64D-1980828DB724
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
P2860
Q46032709-211E194C-9620-4DAE-A64D-1980828DB724
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46032709-211E194C-9620-4DAE-A64D-1980828DB724
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wasDerivedFrom
90ac1eda5582fc42a0d882be1592f34aeeea795c
P2860
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1