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Q91103843-ECFF1FE7-E98E-4794-B1A3-CE9E98243138
Q91103843-ECFF1FE7-E98E-4794-B1A3-CE9E98243138
BestRank
Statement
http://www.wikidata.org/entity/statement/Q91103843-ECFF1FE7-E98E-4794-B1A3-CE9E98243138
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
P50
Q91103843-ECFF1FE7-E98E-4794-B1A3-CE9E98243138
BestRank
Statement
http://www.wikidata.org/entity/statement/Q91103843-ECFF1FE7-E98E-4794-B1A3-CE9E98243138
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
96272dc025fc06b0d68aa35a724c5f3882df4448
P1545
6
http://www.w3.org/2001/XMLSchema#string
P50
Lucia Castiglia