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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOT

Variant:p.A68insFs

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MYOT

NM_006790.3:p.A68insFs

hg38:chr5:137870853 G>GC

Associated Papers

Myotilin gene duplication causing late-onset myotilinopathy.

Spinazzi M et al.

European Journal of Neurology, 2025

39757377 (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."