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Q42425691-9B5C2337-F334-45FD-B3BD-16CC755DBE25
Q42425691-9B5C2337-F334-45FD-B3BD-16CC755DBE25
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42425691-9B5C2337-F334-45FD-B3BD-16CC755DBE25
Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.
P2860
Q42425691-9B5C2337-F334-45FD-B3BD-16CC755DBE25
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42425691-9B5C2337-F334-45FD-B3BD-16CC755DBE25
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wasDerivedFrom
9d3e26ea33a703cbc9f570664b3db4dc03963319
P2860
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.