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Q46045806-51CCBE0D-2A2E-473B-B367-F705AC3BEB22
Q46045806-51CCBE0D-2A2E-473B-B367-F705AC3BEB22
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46045806-51CCBE0D-2A2E-473B-B367-F705AC3BEB22
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
P2860
Q46045806-51CCBE0D-2A2E-473B-B367-F705AC3BEB22
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46045806-51CCBE0D-2A2E-473B-B367-F705AC3BEB22
rank
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Statement
wasDerivedFrom
be7c43f9341e9dc3c30b3a153fec06014bf49b37
P2860
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia