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.




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