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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MACF1

Variant:p.S2045F

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MACF1

NM_001394062.1:p.S2045F

hg38:chr1:39332722 C>T

Associated Papers

A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype.

Kessler R et al.

Pediatric Neurology, 2025

39874661 (PubMed )

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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."