Publications:

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 1954_1955delAT; Met652Glyfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus

Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R

Publication Date: 2016

Variant appearance in text: LDLR: 1954_1955delAT; M652GfsX16

PubMed Link: 28028493

Variant Present in the following documents:

• Main text
• 40064_2016_Article_3763.pdf

View BVdb publication page