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: 1927T>C; Leu643=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: COL3A1: L643L; rs41263757

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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: L643L

PubMed Link: 18272325

Variant Present in the following documents:

• Main text

View BVdb publication page