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RUNX2 c.413T>C ;(p.V138A)
Variant ID: 6-45390684-T-C
NM_001024630.3(
RUNX2
):c.413T>C;(p.V138A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of potential modifier genes in Chinese patients with Wilson disease.
Metallomics : Integrated Biometal Science
Zhou, Donghu D; Jia, Siyu S; Yi, Liping L; Wu, Zhen Z; Song, Yi Y; Zhang, Bei B; Li, Yanmeng Y; Yang, Xiaoxi X; Xu, Anjian A; Li, Xiaojin X; Zhang, Wei W; Duan, Weijia W; Li, Zhenkun Z; Qi, Saiping S; Chen, Zhibin Z; Ouyang, Qin Q; Jia, Jidong J; Huang, Jian J; Ou, Xiaojuan X; You, Hong H
Publication Date: 2022-05-27
Variant appearance in text: RUNX2: 413T>C
PubMed Link:
35357466
Variant Present in the following documents:
mfac024.pdf
View BVdb publication page