Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.G349Splc
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AGK

NM_018238.4:p.G349Splc

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

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

Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure.

Das BB et al.

Jacc. Case Reports, 2019

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