Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.L1171P
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MACF1

NM_012090.5:p.L1171P

Associated Papers

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

Kava H et al.

Frontiers in Pediatrics, 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."