Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I127M
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GJB1

NM_000166.6:p.I127M

Associated Papers

Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.

Merico E et al.

Acta Neurologica Belgica, 2023

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?

Tziakouri A et al.

Case Reports in Neurological Medicine, 2020

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

Nicholson GA et al.

Neurology, 1998

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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."