Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.R520delFs
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ATAD3A

NM_001170535.3:p.R520delFs

Associated Papers

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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