Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.M1I
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AGK

NM_018238.4:p.M1I

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

Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.

Palmer CS et al.

Febs Letters, 2021

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

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K et al.

Molecular Genetics and Metabolism, 2013

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Mayr JA et al.

American Journal of Human Genetics, 2012

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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."