Varaico: Literature-Extracted Genetic Variants

Gene:OPLAH
Variant:p.G860R
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OPLAH

NM_017570.5:p.G860R

Associated Papers

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Kasapkara ÇS et al.

Molecular Syndromology, 2024

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

Li X et al.

Brain & Development, 2015

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Calpena E et al.

European Journal of Pediatrics, 2015

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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."