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Article

Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.

Clinical genetics - 1 May 2021

Fellner Avi, Lossos Alexander, Kogan Elena, Argov Zohar, Gonzaga-Jauregui Claudia, Shuldiner Alan R, Darawshe Malak, Bazak Lily, Lidzbarsky Gabriel, Shomron Noam, Basel-Salmon Lina, Goldberg Yael

Abstract excerpt

POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The genotype-phenotype correlation is still unclear. Phenotypic analysis and exome sequencing were performed in four affected siblings diagnosed clinically with hereditary...

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PMID: 33491183
DOI: 10.1111/cge.13929

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Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.PMID 33491183Read ↗

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