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Q33844489-34BE3DA4-B0E3-4BD0-98DA-07CF283F974B
Q33844489-34BE3DA4-B0E3-4BD0-98DA-07CF283F974B
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http://www.wikidata.org/entity/statement/Q33844489-34BE3DA4-B0E3-4BD0-98DA-07CF283F974B
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
P2860
Q33844489-34BE3DA4-B0E3-4BD0-98DA-07CF283F974B
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http://www.wikidata.org/entity/statement/Q33844489-34BE3DA4-B0E3-4BD0-98DA-07CF283F974B
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wasDerivedFrom
904814b8b754d1a66133b1d769c9d86c142d703d
P2860
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.