RUNX2 c.338T>G ;(p.L113R)

Variant ID: 6-45390609-T-G

NM_001024630.3(RUNX2):c.338T>G;(p.L113R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.

Cells
Xin, Yuejiao Y; Liu, Yang Y; Li, Jie J; Liu, Dandan D; Zhang, Chenying C; Wang, Yixiang Y; Zheng, Shuguo S
Publication Date: 2022-09-01

Variant appearance in text: CCD: 338T>G
PubMed Link: 36078141
Variant Present in the following documents:
  • cells-11-02729.pdf
View BVdb publication page



Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08

Variant appearance in text: RUNX2: 338T>G
PubMed Link: 30095610
Variant Present in the following documents:
View BVdb publication page



Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Plos One
Zhang, Xianli X; Liu, Yang Y; Wang, Xiaozhe X; Sun, Xiangyu X; Zhang, Chenying C; Zheng, Shuguo S
Publication Date: 2017

Variant appearance in text: RUNX2: 338T>G
PubMed Link: 28738062
Variant Present in the following documents:
  • Main text
  • pone.0181653.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RUNX2: L113R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page