Varaico: Literature-Extracted Genetic Variants

Gene:POLR1C
Variant:p.L142F
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POLR1C

NM_203290.4:p.L142F

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.

Liu J et al.

Frontiers in Neurology, 2024

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