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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOT

Variant:p.Y4_F10del0

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MYOT

NM_006790.3:p.Y4_F10del0

hg38:chr5:137870658 AACTACGAACGTCCAAAAC>A

Associated Papers

A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.

Guglielmi V et al.

Clinical Genetics, 2023

37553249 (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."