Publications:

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing.

Frontiers In Genetics

Li, Qianqian Q; Chen, Zhanni Z; Xiong, Hui H; Li, Ranran R; Yu, Chenguang C; Meng, Jingjing J; Shi, Panlai P; Kong, Xiangdong X

Publication Date: 2021

Variant appearance in text: DMD: d90e

PubMed Link: 34899847

Variant Present in the following documents:

• Main text
• fgene-12-762987.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: D90E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page