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Q40386188-4FC6906C-193F-4509-91F3-2808CFEC45EE
Q40386188-4FC6906C-193F-4509-91F3-2808CFEC45EE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40386188-4FC6906C-193F-4509-91F3-2808CFEC45EE
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
P2860
Q40386188-4FC6906C-193F-4509-91F3-2808CFEC45EE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40386188-4FC6906C-193F-4509-91F3-2808CFEC45EE
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wasDerivedFrom
4aba945cfe8a7451b33c129c592e0c0aa983201e
P2860
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.