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10.1111/apt.12352 125

doi: 10.3389/fnins.2021.678154 [DOI] [PMC free article] [PubMed] [Google Scholar] 12

Appendix A.3

An autosomal recessive form of hereditary axonal motor neuropathy associated with neuromyotonia has been linked to loss-of-function mutations of HINT1, which encodes histidine triad nucleotide-binding protein 1, a type of purine phosphoramidase
