Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.V212L
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ACSF3

NM_001243279.3:p.V212L

Associated Papers

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Pupavac M et al.

Molecular Genetics and Metabolism, 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."