Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.N161I
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RAB7A

NM_004637.6:p.N161I

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.

Mulligan RJ et al.

Biomolecules, 2023

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.

Colecchia D et al.

Autophagy, 2018

Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Liu H et al.

International Journal of Molecular Sciences, 2017

Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development.

Ponomareva OY et al.

Neural Development, 2016

The role of rab proteins in neuronal cells and in the trafficking of neurotrophin receptors.

Bucci C et al.

Membranes, 2014

A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease.

Wang X et al.

Gene, 2014

[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].

Xing JW et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.

Ching CK et al.

Chinese Medical Journal, 2010

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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."