Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.D73E
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ATAD3A

NM_001170535.3:p.D73E

Associated Papers

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc4.xlsx › HEK_DiseaseAnnotation

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R et al.

Brain : a Journal of Neurology, 2017

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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."