Varaico: Literature-Extracted Genetic Variants

Gene:AFG2A
Variant:p.K648E
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AFG2A

NM_145207.3:p.K648E

Associated Papers

Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.

Dai Y et al.

Nature Communications, 2025

40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 1._SPATA5

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Musante L et al.

Genes, 2022

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

Zanus C et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 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."