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

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Bibliographic Details
Published in:Clinical case reports 2024-08, Vol.12 (8)
Main Authors: Kachuei, Maryam, Orangi, Kiana, Mohammadi, Aynaz, Mohammadi, Mohammad, Mojbafan, Marzieh
Format: Article
Language:English
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ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.9306