Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.K99N
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AGK

NM_018238.4:p.K99N

Associated Papers

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.

Wu CW et al.

Molecular Genetics and Metabolism, 2023

Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene.

Wang B et al.

Frontiers in Pediatrics, 2021

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N et al.

Fetal and Pediatric Pathology, 2020

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Allali S et al.

Metabolic Brain Disease, 2017

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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."