RUNX2 c.722_725del ;(p.L241Sfs*8)

Variant ID: 6-45459710-AGTTT-A

NM_001024630.3(RUNX2):c.722_725del;(p.L241Sfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


[Cleidocranial dysplasia: a case report and gene mutation analysis].

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal Of Stomatology
Guo, Ling-Yan LY; Xu, Pei-Qiong PQ; Chen, Lin-Lin LL
Publication Date: 2019-12-01

Variant appearance in text: CCD: 722_725delTGTT
PubMed Link: 31875450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of RUNX2 variants associated with cleidocranial dysplasia.

Hereditas
Gao, Xueren X; Li, Kunxia K; Fan, Yanjie Y; Sun, Yu Y; Luo, Xiaomei X; Wang, Lili L; Liu, Huili H; Gong, Zhuwen Z; Wang, Jianguo J; Wang, Yu Y; Gu, Xuefan X; Yu, Yongguo Y
Publication Date: 2019

Variant appearance in text: RUNX2: 722_725delTGTT
PubMed Link: 31548836
Variant Present in the following documents:
  • Main text
  • 41065_2019_Article_107.pdf
View BVdb publication page