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Q35902809-155FE201-8E1E-4E23-AE30-9E703BAC5BBF
Q35902809-155FE201-8E1E-4E23-AE30-9E703BAC5BBF
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http://www.wikidata.org/entity/statement/Q35902809-155FE201-8E1E-4E23-AE30-9E703BAC5BBF
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
P2860
Q35902809-155FE201-8E1E-4E23-AE30-9E703BAC5BBF
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http://www.wikidata.org/entity/statement/Q35902809-155FE201-8E1E-4E23-AE30-9E703BAC5BBF
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wasDerivedFrom
149a0f68f772f0515860677ece547da6877ab0eb
P2860
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.