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Q35001819-722C81DA-D23D-4A5C-BE34-E5224FC6942E
Q35001819-722C81DA-D23D-4A5C-BE34-E5224FC6942E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35001819-722C81DA-D23D-4A5C-BE34-E5224FC6942E
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
P2860
Q35001819-722C81DA-D23D-4A5C-BE34-E5224FC6942E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35001819-722C81DA-D23D-4A5C-BE34-E5224FC6942E
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wasDerivedFrom
40a6aceffb625f9a7557f4c5379b7d6c137579d6
P2860
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum