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Q34591305-7C789F4B-8E24-4921-A246-86BDCCFFC017
Q34591305-7C789F4B-8E24-4921-A246-86BDCCFFC017
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Statement
http://www.wikidata.org/entity/statement/Q34591305-7C789F4B-8E24-4921-A246-86BDCCFFC017
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
P2860
Q34591305-7C789F4B-8E24-4921-A246-86BDCCFFC017
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34591305-7C789F4B-8E24-4921-A246-86BDCCFFC017
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wasDerivedFrom
d79b0994117afdf490bec9ccb35ff02783ecaf29
P2860
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.