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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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