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Waisman Center
Waisman Center
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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  2. Revisiting the pathogenic mechanism of the GJB1 5′ UTR c.-103C > T mutation causing CMTX1

Revisiting the pathogenic mechanism of the GJB1 5′ UTR c.-103C > T mutation causing CMTX1

Svaren, PhD, J. Revisiting the Pathogenic Mechanism of the GJB1 5′ UTR C.-103C > T Mutation Causing CMTX1.
Grosz, B. R., Svaren, J., Perez-Siles, G., Nicholson, G. A., & Kennerson, M. L. (2021). Revisiting the pathogenic mechanism of the GJB1 5′ UTR c.-103C > T mutation causing CMTX1. Neurogenetics, 22(3), 149–160. https://doi.org/10.1007/s10048-021-00650-9

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