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: COL3A1: 1659T>A; Pro553=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Natural variation in four human collagen genes across an ethnically diverse population.

Genomics

Chan, Ting-Fung TF; Poon, Annie A; Basu, Analabha A; Addleman, Nick R NR; Chen, Justin J; Phong, Angie A; Byers, Peter H PH; Klein, Teri E TE; Kwok, Pui-Yan PY

Publication Date: 2008-04

Variant appearance in text: COL3A1: P553P

PubMed Link: 18272325

Variant Present in the following documents:

• Main text

View BVdb publication page