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Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
Autores principales: | Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188472/ https://www.ncbi.nlm.nih.gov/pubmed/32426512 http://dx.doi.org/10.1212/NXG.0000000000000423 |
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