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European Journal of Human Genetics : EJHG|April 13, 2019
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathyRuth Sheffer, Michal Gur, Rebecca Brooks, et al.
Annals of Clinical and Translational Neurology|August 26, 2023
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathyKevin A Strauss, Vincent J Carson, Emilienne Bolettieri, et al.
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