Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.N71Y
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KIF1B

NM_001365951.3:p.N71Y

Associated Papers

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

The expanding genetic landscape of hereditary motor neuropathies.

Beijer D et al.

Brain : a Journal of Neurology, 2020

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN et al.

Methods (san Diego, Calif.), 2017

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B et al.

Journal of Neurology, 2015

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Lin KP et al.

Plos One, 2011

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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."