Associated Papers
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.
Dawson J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes AH et al.
Nature Reviews. Neuroscience, 2009
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