Publications:

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: S138G

PubMed Link: 31211173

Variant Present in the following documents:

• Main text
• ACN3-6-1090.pdf

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Clinical and biophysical characterization of 19 GJB1 mutations.

Annals Of Clinical And Translational Neurology

Tsai, Pei-Chien PC; Yang, De-Ming DM; Liao, Yi-Chu YC; Chiu, Tai-Yu TY; Kuo, Hung-Chou HC; Su, Yu-Ping YP; Guo, Yuh-Cherng YC; Soong, Bing-Wen BW; Lin, Kon-Ping KP; Liu, Yo-Tsen YT; Lee, Yi-Chung YC

Publication Date: 2016-11

Variant appearance in text: GJB1: 412A>G

PubMed Link: 27844031

Variant Present in the following documents:

• Main text
• ACN3-3-854.pdf

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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: S138G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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