Publications:

De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: PC: 1222G>A

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Seidel, Holger H; Haracska, Bianca B; Naumann, Jennifer J; Westhofen, Philipp P; Hass, Moritz Sebastian MS; Kruppenbacher, Johannes Philipp JP

Publication Date: 2020

Variant appearance in text: PC: 1222G>A

PubMed Link: 32309994

Variant Present in the following documents:

• Main text

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