Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.S485R
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ACSF3

NM_001243279.3:p.S485R

Associated Papers

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients.

Wang P et al.

Frontiers in Pediatrics, 2021

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES et al.

Brain : a Journal of Neurology, 2016

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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."