Publications:

NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.

Bmc Medical Genomics

Tang, Feng F; Xiao, Yuanyuan Y; Zhou, Cong C; Zhang, Haixia H; Wang, Jing J; Zeng, Yang Y

Publication Date: 2023-05-30

Variant appearance in text: DMD: 1793C>G; S598*

PubMed Link: 37254189

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1556.pdf

View BVdb publication page

Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F

Publication Date: 2021

Variant appearance in text: DMD: 1793C>G; Ser598*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

View BVdb publication page