Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.F406fs
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AGK

NM_018238.4:p.F406fs

Associated Papers

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Barbosa-Gouveia S et al.

International Journal of Molecular Sciences, 2021

34948281 (PubMed )
Supplement: ijms-22-13484-s001.zip › ijms-1495764-supplementary.pdf

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

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

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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."