Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Maryam Kachuei, Kiana Orangi, Aynaz Mohammadi, Mohammad Mohammadi, Marzieh Mojbafan
Format: Artículo Open Access
Published: Wiley 2024
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