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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPLAH

Variant:p.T320K

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OPLAH

NM_017570.5:p.T320K

hg38:chr8:144058139 G>T

Associated Papers

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

Li X et al.

Brain & Development, 2015

25851806 (PubMed )

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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."