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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007114922> ?p ?o ?g. }

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• W2007114922 abstract "Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes. We uncovered in three cases without POLR3A mutation recessive mutations in POLR3B, which codes for the second largest subunit of Pol III. Mutations in genes coding for Pol III subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic hypogonadism." @default.
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• W2007114922 date "2011-11-01" @default.
• W2007114922 modified "2023-10-16" @default.
• W2007114922 title "Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy" @default.
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• W2007114922 doi "https://doi.org/10.1016/j.ajhg.2011.10.006" @default.
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