Publications:

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

European Journal Of Human Genetics : Ejhg

Spitali, Pietro P; Zaharieva, Irina I; Bohringer, Stefan S; Hiller, Monika M; Chaouch, Amina A; Roos, Andreas A; Scotton, Chiara C; Claustres, Mireille M; Bello, Luca L; McDonald, Craig M CM; Hoffman, Eric P EP; , ; Koeks, Zaida Z; Eka Suchiman, H H; Cirak, Sebahattin S; Scoto, Mariacristina M; Reza, Mojgan M; 't Hoen, Peter A C PAC; Niks, Erik H EH; Tuffery-Giraud, Sylvie S; Lochmüller, Hanns H; Ferlini, Alessandra A; Muntoni, Francesco F; Aartsma-Rus, Annemieke A

Publication Date: 2020-06

Variant appearance in text: DMD: 1886C>G

PubMed Link: 31896777

Variant Present in the following documents:

• Main text
• 41431_2019_Article_563.pdf

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Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.

Journal Of Zhejiang University. Science. B

Yang, Yan-Mei YM; Yan, Kai K; Liu, Bei B; Chen, Min M; Wang, Li-Ya LY; Huang, Ying-Zhi YZ; Qian, Ye-Qing YQ; Sun, Yi-Xi YX; Li, Hong-Ge HG; Dong, Min-Yue MY

Publication Date: 2019

Variant appearance in text: DMD: 1886C>G; Ser629X

PubMed Link: 31379145

Variant Present in the following documents:

• Main text

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A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis

Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J

Publication Date: 2018-09

Variant appearance in text: DMD: 1886C>G; Ser629X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases

Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y

Publication Date: 2015-01-23

Variant appearance in text: DMD: 1886C>G; Ser629X

PubMed Link: 25612904

Variant Present in the following documents:

• Main text
• 13023_2014_Article_220.pdf

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