Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.P543S
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ACSF3

NM_001243279.3:p.P543S

Associated Papers

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL et al.

Nature Genetics, 2011

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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."