Publications:

Variant interpretation in molecular autopsy: a useful dilemma.

International Journal Of Legal Medicine

Scheiper-Welling, Stefanie S; Tabunscik, Monika M; Gross, Theresa E TE; Jenewein, Tina T; Beckmann, Britt M BM; Niess, Constanze C; Gradhand, Elise E; Wunder, Cora C; Schneider, Peter M PM; Rothschild, Markus A MA; Verhoff, Marcel A MA; Kauferstein, Silke S

Publication Date: 2022-03

Variant appearance in text: rs199472916

PubMed Link: 35091851

Variant Present in the following documents:

• Main text

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 1600C>A; R534S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.

The Journal Of General Physiology

Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI

Publication Date: 2013-09

Variant appearance in text: Kv11.1: R534S

PubMed Link: 23980196

Variant Present in the following documents:

• supp_jgp.201310975_JGP_201310975_sm.pdf

View BVdb publication page