Publications:

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Human Mutation

Liu, Juan J; Zheng, Yu Y; Huang, Jiaotian J; Zhu, Desheng D; Zang, Ping P; Luo, Zhenqing Z; Yang, Yongjia Y; Peng, Yu Y; Xiao, Zhenghui Z; Zhu, Yimin Y; Lu, Xiulan X

Publication Date: 2021-11

Variant appearance in text: VWF: 2635G>A; Asp879Asn

PubMed Link: 34298581

Variant Present in the following documents:

• Main text
• HUMU-42-1443.pdf

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The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Blood

Dong, Xianchi X; Leksa, Nina C NC; Chhabra, Ekta Seth ES; Arndt, Joseph W JW; Lu, Qi Q; Knockenhauer, Kevin E KE; Peters, Robert T RT; Springer, Timothy A TA

Publication Date: 2019-04-04

Variant appearance in text: VWF: D879N

PubMed Link: 30642920

Variant Present in the following documents:

• Main text

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