Varaico: Literature-Extracted Genetic Variants

Gene:ACOX1
Variant:p.R148Q
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ACOX1

NM_004035.7:p.R148Q

Associated Papers

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Ghosh A et al.

Archives of Disease in Childhood, 2017

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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."