Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.N257S
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SLC52A3

NM_033409.4:p.N257S

Associated Papers

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Wen B et al.

Human Molecular Genetics, 2022

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.

Tang Z et al.

Frontiers in Neurology, 2021

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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."