Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.R212C
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ATAD3A

NM_001170535.3:p.R212C

Associated Papers

Clinical and variant spectrum of patients harboring ATAD3A variants.

Mei H et al.

Translational Pediatrics, 2025

40800200 (PubMed )
Supplement: tp-14-07-1402-supplementary.pdf

ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.

Chen L et al.

International Journal of Molecular Sciences, 2023

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Skopkova M et al.

Orphanet Journal of Rare Diseases, 2023

37095554 (PubMed )
Supplement: 13023_2023_2689_MOESM1_ESM.xlsx › Suppl._Table_3_-_Variants
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