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: MYH7: 895+17G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.

Journal Of Translational Medicine

Li, Zongzhe Z; Huang, Jin J; Zhao, Jinzhao J; Chen, Chen C; Wang, Hong H; Ding, Hu H; Wang, Dao Wu DW; Wang, Dao Wen DW

Publication Date: 2014-06-17

Variant appearance in text: rs45580436

PubMed Link: 24938736

Variant Present in the following documents:

• Main text
• 1479-5876-12-173.pdf

View BVdb publication page