Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.M327T
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ACTA1

NM_001100.4:p.M327T

Associated Papers

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

Haghighi A et al.

European Journal of Human Genetics : Ejhg, 2023

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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."