Varaico: Literature-Extracted Genetic Variants

Gene:RORA
Variant:p.L428P
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RORA

NM_134261.3:p.L428P

Associated Papers

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Granath K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Meester JAN et al.

Npj Genomic Medicine, 2024

38531898 (PubMed )
Supplement: 41525_2024_413_MOESM2_ESM.pdf
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