Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.R208_A215del0
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ATAD3A

NM_001170535.3:p.R208_A215del0

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

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Tawfik CA et al.

Ophthalmic Genetics, 2023

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