Varaico: Literature-Extracted Genetic Variants

Gene:MYF5
Variant:p.Q8fs
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MYF5

NM_005593.3:p.Q8fs

Associated Papers

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.

Ocieczek P et al.

Genes, 2024

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Di Gioia SA et al.

American Journal of Human Genetics, 2018

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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."