Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.F345insFs
Back to variants list

AGK

NM_018238.4:p.F345insFs

Associated Papers

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.

Gong X et al.

Frontiers in Pediatrics, 2026

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

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

Sengers syndrome: a unique cause of severe hypertrophic cardiomyopathy.

Kapoor S

Journal of Electrocardiology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."