Publications:

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Frontiers In Genetics

Zhou, Yuan-Yuan YY; Du, Yu-Fang YF; Lu, Qing Q; Zhai, Xiu-Zhang XZ; Shi, Ming-Fang MF; Chen, Dan-Yun DY; Liu, Sun-Rong SR; Zhong, Ying Y

Publication Date: 2022

Variant appearance in text: VWF: 6104G>A; Gly2035Asp; rs186806674

PubMed Link: 35464846

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.

Frontiers In Genetics

Ouyang, Xuejun X; Zhang, Yu Y; Zhang, Lijuan L; Luo, Jixuan J; Zhang, Ting T; Hu, Hui H; Liu, Lin L; Zhong, Lieqiang L; Zeng, Shaoying S; Xu, Pingyi P; Bai, Zhenjiang Z; Wong, Lee-Jun LJ; Wang, Jing J; Wang, Chunli C; Wang, Bin B; Zhang, Victor Wei VW

Publication Date: 2021

Variant appearance in text: VWF: 6104G>A; G2035D

PubMed Link: 34490048

Variant Present in the following documents:

• Main text
• fgene-12-725259.pdf

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: VWF: 6104G>A; G2035D

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: VWF: G2035D

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page