Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: MET: 1304G>A; Ser435Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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MetalProGNet: a structure-based deep graph model for metalloprotein-ligand interaction predictions.

Chemical Science

Jiang, Dejun D; Ye, Zhaofeng Z; Hsieh, Chang-Yu CY; Yang, Ziyi Z; Zhang, Xujun X; Kang, Yu Y; Du, Hongyan H; Wu, Zhenxing Z; Wang, Jike J; Zeng, Yundian Y; Zhang, Haotian H; Wang, Xiaorui X; Wang, Mingyang M; Yao, Xiaojun X; Zhang, Shengyu S; Wu, Jian J; Hou, Tingjun T

Publication Date: 2023-02-22

Variant appearance in text: MET: S435N

PubMed Link: 36845922

Variant Present in the following documents:

• SC-014-D2SC06576B-s003.xlsx, sheet 1

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: MET: S435N; rs199761604

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page