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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clin Genet. 2019 06; 95(6):736-738.
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PubMed
subject areas
Adult
Child, Preschool
Collagen Type XII
Extracellular Matrix
Female
Humans
Infant
Joint Instability
Male
Muscular Diseases
Poland
authors with profiles
Anna Biernacka