Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.A16V
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CS

NM_004077.3:p.A16V

Associated Papers

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.

Citrigno L et al.

International Journal of Molecular Sciences, 2020

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Halonen M et al.

Human Mutation, 2004

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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."