Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E186*
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GJB1

NM_000166.6:p.E186*

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

Shimizu C et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child Neurology, 2016

Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease.

Basu A et al.

Neurology, 2011

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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