Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.R4914C
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MACF1

NM_012090.5:p.R4914C

Associated Papers

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants.

Xi J et al.

Human Genomics, 2026

Identification of MACF1 as a causative gene of generalised epilepsy.

Lei XY et al.

Journal of Medical Genetics, 2025

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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."