Article

Functional interpretation of <i>ATAD3A</i> variants in neuro-mitochondrial phenotypes

2020-10-05

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism. Biallelic deletions (null), recessive missense variants (hypomorph), and heterozygous missense variants or duplications (antimorph)...

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Literature Corpus work: 166d6543-c244-5b9d-aeca-f0640718beae
DOI: 10.1101/2020.10.05.318519

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