Publications:

Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis.

Brain Sciences

Boso, Federica F; Taioli, Federica F; Cabrini, Ilaria I; Cavallaro, Tiziana T; Fabrizi, Gian Maria GM

Publication Date: 2020-12-27

Variant appearance in text: GJB1: Met1Ile

PubMed Link: 33375465

Variant Present in the following documents:

• Main text

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: M1I

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Annals Of Clinical And Translational Neurology

Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC

Publication Date: 2019-06

Variant appearance in text: GJB1: M1I

PubMed Link: 31211173

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GJB1: M1I

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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