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Q35001819-2B782AC4-FE68-4413-82DD-0FDFC78AC15F
Q35001819-2B782AC4-FE68-4413-82DD-0FDFC78AC15F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35001819-2B782AC4-FE68-4413-82DD-0FDFC78AC15F
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
P2860
Q35001819-2B782AC4-FE68-4413-82DD-0FDFC78AC15F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35001819-2B782AC4-FE68-4413-82DD-0FDFC78AC15F
rank
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wasDerivedFrom
40a6aceffb625f9a7557f4c5379b7d6c137579d6
P2860
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.