Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.H678R
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MACF1

NM_001394062.1:p.H678R

Associated Papers

A clinical and genotype-phenotype analysis of MACF1 variants.

Dekker J et al.

American Journal of Human Genetics, 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."