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RUNX2 c.424G>C ;(p.V142L)
Variant ID: 6-45399600-G-C
NM_001024630.3(
RUNX2
):c.424G>C;(p.V142L)
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:
Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutations.
Plos One
Chen, Peng P; Liu, Zheng Z; Wang, Xuejuan X; Peng, Junhui J; Sun, Qianqian Q; Li, Jianzhong J; Wang, Mingxing M; Niu, Liwen L; Zhang, Zhiyong Z; Cai, Gang G; Teng, Maikun M; Li, Xu X
Publication Date: 2015
Variant appearance in text: CCD: V142L
PubMed Link:
25781187
Variant Present in the following documents:
Main text
pone.0120304.pdf
View BVdb publication page