Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.R236*
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EXOSC3

NM_016042.4:p.R236*

Associated Papers

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins E et al.

Journal of Inherited Metabolic Disease, 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."