Publications:

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

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

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: F125C

PubMed Link: 32475984

Variant Present in the following documents:

• Main text
• nihms-1603463.pdf

View BVdb publication page

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: KCNH2: 374T>G; Phe125Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: F125C

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

View BVdb publication page