Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.N349Splc
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DLD

NM_000108.5:p.N349Splc

Associated Papers

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Hammann N et al.

Journal of Inherited Metabolic Disease, 2025

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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."