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Q35902809-8A7C2997-F996-4AA6-AE16-42BCA7F2D4D9
Q35902809-8A7C2997-F996-4AA6-AE16-42BCA7F2D4D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35902809-8A7C2997-F996-4AA6-AE16-42BCA7F2D4D9
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
P2860
Q35902809-8A7C2997-F996-4AA6-AE16-42BCA7F2D4D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35902809-8A7C2997-F996-4AA6-AE16-42BCA7F2D4D9
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wasDerivedFrom
149a0f68f772f0515860677ece547da6877ab0eb
P2860
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.