Publications:

SOAT1 missense variant in two cats with sebaceous gland dysplasia.

Molecular Genetics And Genomics : Mgg

Kiener, Sarah S; McMahill, Barbara G BG; Affolter, Verena K VK; Welle, Monika M; Yager, Julie A JA; Jagannathan, Vidhya V; Leeb, Tosso T

Publication Date: 2023-04-15

Variant appearance in text: TTN: 69508G>A

PubMed Link: 37060467

Variant Present in the following documents:

• 438_2023_2020_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: TTN: 69508G>A; E23170K; rs1334543067

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TTN: E23170K; rs1334543067

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page