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TTN c.1045G>T ;(p.G349C)
Variant ID: 2-179659849-C-A
NM_001267550.1(
TTN
):c.1045G>T;(p.G349C)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutations of p53 decrease sensitivity to the anthracycline treatments in bladder cancer cells.
Oncotarget
Pandey, Sony S; Bourn, Jennifer J; Cekanova, Maria M
Publication Date: 2018-06-19
Variant appearance in text: TMD: 1045G>T
PubMed Link:
29983877
Variant Present in the following documents:
Main text
oncotarget-09-28514.pdf
View BVdb publication page
Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model.
Matrix Biology : Journal Of The International Society For Matrix Biology
Mertz, E L EL; Makareeva, E E; Mirigian, L S LS; Koon, K Y KY; Perosky, J E JE; Kozloff, K M KM; Leikin, S S
Publication Date: 2016
Variant appearance in text: TMD: G349C
PubMed Link:
27039252
Variant Present in the following documents:
Main text
View BVdb publication page
Effect of anti-sclerostin therapy and osteogenesis imperfecta on tissue-level properties in growing and adult mice while controlling for tissue age.
Bone
Sinder, Benjamin P BP; Lloyd, William R WR; Salemi, Joseph D JD; Marini, Joan C JC; Caird, Michelle S MS; Morris, Michael D MD; Kozloff, Kenneth M KM
Publication Date: 2016-03
Variant appearance in text: TMD: G349C
PubMed Link:
26769006
Variant Present in the following documents:
Main text
View BVdb publication page
Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment.
Bone
Sinder, Benjamin P BP; Salemi, Joseph D JD; Ominsky, Michael S MS; Caird, Michelle S MS; Marini, Joan C JC; Kozloff, Kenneth M KM
Publication Date: 2015-02
Variant appearance in text: TMD: G349C
PubMed Link:
25445450
Variant Present in the following documents:
Main text
View BVdb publication page
Mineral and matrix changes in Brtl/+ teeth provide insights into mineralization mechanisms.
Biomed Research International
Boskey, Adele L AL; Verdelis, Kostas K; Spevak, Lyudmila L; Lukashova, Lyudmila L; Beniash, Elia E; Yang, Xu X; Cabral, Wayne A WA; Marini, Joan C JC
Publication Date: 2013
Variant appearance in text: TMD: Gly349Cys
PubMed Link:
23802117
Variant Present in the following documents:
Main text
BMRI2013-295812.pdf
View BVdb publication page