Varaico: Literature-Extracted Genetic Variants

Gene:OPLAH
Variant:p.M867_P868insFs
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OPLAH

NM_017570.5:p.M867_P868insFs

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

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

Almaghlouth IA et al.

Clinical Genetics, 2012

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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."