Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3B
Variant:p.R528W
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ATAD3B

NM_031921.6:p.R528W

Associated Papers

ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.

Chen L et al.

International Journal of Molecular Sciences, 2023

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus.

Al Madhoun A et al.

The Application of Clinical Genetics, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
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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."