Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.E377_G378Splc
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AGK

NM_018238.4:p.E377_G378Splc

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

A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.

Fan P et al.

Pediatric Research, 2023

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

Wang B et al.

Frontiers in Pediatrics, 2021

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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."