Publications:

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Molecular Genetics & Genomic Medicine

Lin, Pei-Chin PC; Cheng, Chao-Neng CN; Huang, Hsi-Yuan HY; Tseng, Yu-Hsin YH; Chang, Ya-Sian YS; Lin, Chien-Yu CY; Chang, Jan-Gowth JG

Publication Date: 2020-05

Variant appearance in text: MED16: 2246G>A; R749H; rs764958390

PubMed Link: 32160409

Variant Present in the following documents:

• MGG3-8-e1220-s001.xlsx, sheet 1

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: MED16: R749H

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page