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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MACF1

Variant:p.T685I

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MACF1

NM_001394062.1:p.T685I

hg38:chr1:39293519 C>T

Associated Papers

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

Xi J et al.

Human Genomics, 2026

41629993 (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."