Publications:

Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience

Shi, Tianyuan T; Cheung, Martin M

Publication Date: 2021-05-13

Variant appearance in text: DMD: G166V

PubMed Link: 33985584

Variant Present in the following documents:

• Main text
• 13578_2021_Article_594.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: 497G>T; Gly166Val

PubMed Link: 31379145

Variant Present in the following documents:

• Main text

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One

Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2015

Variant appearance in text: DMD: Gly166Val

PubMed Link: 26284620

Variant Present in the following documents:

• Main text

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 497G>T; Gly166Val

PubMed Link: 23536893

Variant Present in the following documents:

• Main text

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