Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.E3302G
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MACF1

NM_001394062.1:p.E3302G

Associated Papers

Identification of MACF1 as a causative gene of generalised epilepsy.

Lei XY et al.

Journal of Medical Genetics, 2025

40350249 (PubMed )
Supplement: jmg-62-7-s001.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 289.143
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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."