Publications:

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Chinese Medical Journal

Ouyang, Zhi-Yuan ZY; Chen, You Y; Qin, Da-Qiang DQ; Cen, Zhi-Dong ZD; Zheng, Xiao-Sheng XS; Xie, Fei F; Chen, Si S; Wang, Hao-Tian HT; Yang, De-Hao DH; Chen, Xin-Hui XH; Wang, Le-Bo LB; Zhang, Bao-Rong BR; Luo, Wei W

Publication Date: 2020-11-05

Variant appearance in text: GJB1: 65G>C; R22P

PubMed Link: 32941234

Variant Present in the following documents:

• Main text
• cm9-133-2633.pdf

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: R22P

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: R22P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: R22P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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A fully atomistic model of the Cx32 connexon.

Plos One

Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F

Publication Date: 2008-07-02

Variant appearance in text: CMTX: R22P

PubMed Link: 18648547

Variant Present in the following documents:

• Main text
• pone.0002614.pdf

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