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FLNB c.292+26243T>A
Variant ID: 3-58020826-T-A
NM_001457.3(
FLNB
):c.292+26243T>A
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:
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
American Journal Of Human Genetics
Jiang, Qian Q; Arnold, Stacey S; Heanue, Tiffany T; Kilambi, Krishna Praneeth KP; Doan, Betty B; Kapoor, Ashish A; Ling, Albee Yun AY; Sosa, Maria X MX; Guy, Moltu M; Jiang, Qingguang Q; Burzynski, Grzegorz G; West, Kristen K; Bessling, Seneca S; Griseri, Paola P; Amiel, Jeanne J; Fernandez, Raquel M RM; Verheij, Joke B G M JB; Hofstra, Robert M W RM; Borrego, Salud S; Lyonnet, Stanislas S; Ceccherini, Isabella I; Gray, Jeffrey J JJ; Pachnis, Vassilis V; McCallion, Andrew S AS; Chakravarti, Aravinda A
Publication Date: 2015-04-02
Variant appearance in text: rs839232
PubMed Link:
25839327
Variant Present in the following documents:
Main text
View BVdb publication page
Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
Human Molecular Genetics
Lei, Shu-Feng SF; Tan, Li-Jun LJ; Liu, Xiao-Gang XG; Wang, Liang L; Yan, Han H; Guo, Yan-Fang YF; Liu, Yao-Zhong YZ; Xiong, Dong-Hai DH; Li, Jian J; Yang, Tie-Lin TL; Chen, Xiang-Ding XD; Guo, Yan Y; Deng, Fei-Yan FY; Zhang, Yin-Ping YP; Zhu, Xue-Zhen XZ; Levy, Shawn S; Papasian, Christopher J CJ; Hamilton, James J JJ; Recker, Robert R RR; Deng, Hong-Wen HW
Publication Date: 2009-05-01
Variant appearance in text: rs839232
PubMed Link:
19039035
Variant Present in the following documents:
Main text
View BVdb publication page