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Q33844489-275F3060-704D-4A3F-86FE-E26C8DF9DC32
Q33844489-275F3060-704D-4A3F-86FE-E26C8DF9DC32
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http://www.wikidata.org/entity/statement/Q33844489-275F3060-704D-4A3F-86FE-E26C8DF9DC32
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
P2860
Q33844489-275F3060-704D-4A3F-86FE-E26C8DF9DC32
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33844489-275F3060-704D-4A3F-86FE-E26C8DF9DC32
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wasDerivedFrom
72298cbaac9ff1dc3cd09c132ef5879e9ae85db0
P2860
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.