Publications:

Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: VWF: R924W; rs61748491

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

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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: VWF: R924W; rs61748491

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis Research

White-Adams, Tara C TC; Ng, Christopher J CJ; Jacobi, Paula M PM; Haberichter, Sandra L SL; Di Paola, Jorge A JA

Publication Date: 2016-09

Variant appearance in text: VWF: 2770C>T; R924W

PubMed Link: 27533707

Variant Present in the following documents:

• Main text

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