Publications:

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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: G1672R

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: VWF: 5014G>A; Gly1672Arg; rs61750598

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Brain And Behavior

Yang, Li L; You, Cuiping C; Qiu, Shiyan S; Yang, Xiaofan X; Li, Yufen Y; Liu, Feng F; Zhang, Dongqing D; Niu, Yue Y; Xu, Liyun L; Xu, Na N; Li, Xia X; Luo, Fang F; Yang, Junli J; Li, Baomin B

Publication Date: 2020-05

Variant appearance in text: VWF: 5014G>A; G1672R

PubMed Link: 32237035

Variant Present in the following documents:

• Main text
• BRB3-10-e01597.pdf

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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis

Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C

Publication Date: 2018-01

Variant appearance in text: VWF: 5014G>A; G1672R; rs61750598

PubMed Link: 31249928

Variant Present in the following documents:

• Main text

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Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Plos One

Manderstedt, Eric E; Nilsson, Rosanna R; Lind-Halldén, Christina C; Ljung, Rolf R; Astermark, Jan J; Halldén, Christer C

Publication Date: 2019

Variant appearance in text: VWF: 5014G>A; Gly1672Arg; rs61750598

PubMed Link: 31026269

Variant Present in the following documents:

• Main text
• pone.0216179.pdf
• pone.0216179.s001.xlsx, sheet 1

View BVdb publication page

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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth

Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL

Publication Date: 2013-02

Variant appearance in text: VWF: G1672R

PubMed Link: 23216583

Variant Present in the following documents:

• Main text

View BVdb publication page

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