Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.R119W
Back to variants list

HINT1

NM_005340.7:p.R119W

Associated Papers

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Tessa A et al.

Genes, 2024

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

[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy].

Xu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."