Varaico: Literature-Extracted Genetic Variants

Gene:DAP
Variant:p.D69Y
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DAP

NM_004394.3:p.D69Y

Associated Papers

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

Li W et al.

Bmc Neurology, 2020

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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."