Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.G5228C
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MACF1

NM_001394062.1:p.G5228C

Associated Papers

A Multifaceted Giant Protein Microtubule-Actin Cross-Linking Factor 1.

Lin CM et al.

International Journal of Molecular Sciences, 2025

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy.

Capisizu A et al.

Journal of Medicine and Life, 2024

Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1.

Bölsterli BK et al.

Neuropediatrics, 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."