Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.T50_H51delFs
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HINT1

NM_005340.7:p.T50_H51delFs

Associated Papers

A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.

Xu L et al.

Acta Neurologica Belgica, 2022

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.

Wang Z et al.

European Journal of Medical Genetics, 2019

Abstracts of the Fifth Annual Meeting of the Italian Association for the Study of the Peripheral Nervous System (ASNP).

Unknown Author

Journal of the Peripheral Nervous System : Jpns, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."