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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOZ3

Variant:p.S42L

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MYOZ3

NM_001122853.3:p.S42L

hg38:chr5:150670547 C>T

Associated Papers

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis.

Valberg SJ et al.

Equine Veterinary Journal, 2021

32896939 (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."