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PC c.213C>A ;(p.D71E)
Variant ID: 11-66639266-G-T
NM_001040716.1(
PC
):c.213C>A;(p.D71E)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 213C>A; D71E
PubMed Link:
33777337
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page
Protocol for the development of guidance for stakeholder engagement in health and healthcare guideline development and implementation.
Systematic Reviews
Petkovic, Jennifer J; Riddle, Alison A; Akl, Elie A EA; Khabsa, Joanne J; Lytvyn, Lyubov L; Atwere, Pearl P; Campbell, Pauline P; Chalkidou, Kalipso K; Chang, Stephanie M SM; Crowe, Sally S; Dans, Leonila L; Jardali, Fadi El FE; Ghersi, Davina D; Graham, Ian D ID; Grant, Sean S; Greer-Smith, Regina R; Guise, Jeanne-Marie JM; Hazlewood, Glen G; Jull, Janet J; Katikireddi, S Vittal SV; Langlois, Etienne V EV; Lyddiatt, Anne A; Maxwell, Lara L; Morley, Richard R; Mustafa, Reem A RA; Nonino, Francesco F; Pardo, Jordi Pardo JP; Pollock, Alex A; Pottie, Kevin K; Riva, John J; Schünemann, Holger H; Simeon, Rosiane R; Smith, Maureen M; Stein, Airton T AT; Synnot, Anneliese A; Tufte, Janice J; White, Howard H; Welch, Vivian V; Concannon, Thomas W TW; Tugwell, Peter P
Publication Date: 2020-02-01
Variant appearance in text: PC: D71E
PubMed Link:
32007104
Variant Present in the following documents:
Main text
View BVdb publication page
Synthesis of nickel/gallium nanoalloys using a dual-source approach in 1-alkyl-3-methylimidazole ionic liquids.
Beilstein Journal Of Nanotechnology
Simon, Ilka I; Hornung, Julius J; Barthel, Juri J; Thomas, Jörg J; Finze, Maik M; Fischer, Roland A RA; Janiak, Christoph C
Publication Date: 2019
Variant appearance in text: PC: D71E
PubMed Link:
31501747
Variant Present in the following documents:
Main text
View BVdb publication page
Mutations in transcriptional regulators allow selective engineering of signal integration logic.
Mbio
Semsey, Szabolcs S
Publication Date: 2014-06-24
Variant appearance in text: PC: D71E
PubMed Link:
24961691
Variant Present in the following documents:
mBio.01171-14.pdf
View BVdb publication page
Activated protein C action in inflammation.
British Journal Of Haematology
Sarangi, Pranita P PP; Lee, Hyun-wook HW; Kim, Minsoo M
Publication Date: 2010-03
Variant appearance in text: PC: D71E
PubMed Link:
19995397
Variant Present in the following documents:
Main text
View BVdb publication page