Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.E76*
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MTM1

NM_000252.3:p.E76*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.

Hamanaka K et al.

Neuromuscular Disorders : Nmd, 2016

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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."