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RUNX2 c.231T>G ;(p.A77=)
Variant ID: 6-45390502-T-G
NM_001024630.3(
RUNX2
):c.231T>G;(p.A77=)
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:
Bivalves are NO different: nitric oxide as negative regulator of metamorphosis in the Pacific oyster, Crassostrea gigas.
Bmc Developmental Biology
Vogeler, Susanne S; Carboni, Stefano S; Li, Xiaoxu X; Nevejan, Nancy N; Monaghan, Sean J SJ; Ireland, Jacqueline H JH; Joyce, Alyssa A
Publication Date: 2020-11-23
Variant appearance in text: CCD: A77A
PubMed Link:
33228520
Variant Present in the following documents:
Main text
View BVdb publication page
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29
Variant appearance in text: RUNX2: A77A
PubMed Link:
30497413
Variant Present in the following documents:
12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page