Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.H51fs
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HINT1

NM_005340.7:p.H51fs

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

Axonal neuropathy with neuromyotonia: there is a HINT.

Peeters K et al.

Brain : a Journal of Neurology, 2017

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.

Boaretto F et al.

Muscle & Nerve, 2015

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."