Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.T407T
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ATAD3A

NM_018188.5:p.T407T

Associated Papers

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.

Peralta S et al.

Molecular Genetics and Metabolism, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."