Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.K75fs
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AGK

NM_018238.4:p.K75fs

Associated Papers

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

Wang B et al.

Frontiers in Pediatrics, 2021

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

Allali S et al.

Metabolic Brain Disease, 2017

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A et al.

Orphanet Journal of Rare Diseases, 2014

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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."