Publications:

Detecting Rare Variants and Heteroplasmy of Mitochondrial DNA from High-Throughput Sequencing in Patients with Coronary Artery Disease.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Jia, Qian Q; Xu, Lu L; Shen, Juan J; Wei, Yanping Y; Xu, Huaiqian H; Shi, Jinlong J; Jia, Zhilong Z; Zhao, Xiaojing X; Liu, Chunlei C; Zhong, Qin Q; Tian, Yaping Y; He, Kunlun K

Publication Date: 2020-11-02

Variant appearance in text: DBP: G16S

PubMed Link: 33132382

Variant Present in the following documents:

• medscimonit-26-e925401.pdf

View BVdb publication page

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.

Molecular Genetics And Metabolism Reports

Chapel-Crespo, Cristel C CC; Villalba, Ricardo R; Wang, Raymond R; Boyer, Monica M; Chang, Richard R; Waterham, Hans R HR; Abdenur, Jose E JE

Publication Date: 2020-09

Variant appearance in text: DBP: Gly16Ser

PubMed Link: 32528852

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page