Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.A1725V
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SZT2

NM_001365999.1:p.A1725V

Associated Papers

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy.

Uittenbogaard M et al.

Clinical Case Reports, 2018

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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."