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EPHB2 c.1807G>A ;(p.E603K)
Variant ID: 1-23232521-G-A
NM_017449.3(
EPHB2
):c.1807G>A;(p.E603K)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Nature Communications
Wang, Tianyun T; Guo, Hui H; Xiong, Bo B; Stessman, Holly A F HA; Wu, Huidan H; Coe, Bradley P BP; Turner, Tychele N TN; Liu, Yanling Y; Zhao, Wenjing W; Hoekzema, Kendra K; Vives, Laura L; Xia, Lu L; Tang, Meina M; Ou, Jianjun J; Chen, Biyuan B; Shen, Yidong Y; Xun, Guanglei G; Long, Min M; Lin, Janice J; Kronenberg, Zev N ZN; Peng, Yu Y; Bai, Ting T; Li, Honghui H; Ke, Xiaoyan X; Hu, Zhengmao Z; Zhao, Jingping J; Zou, Xiaobing X; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2016-11-08
Variant appearance in text: EPHB2: 1807G>A; Glu603Lys
PubMed Link:
27824329
Variant Present in the following documents:
ncomms13316-s5.xlsx, sheet 1
View BVdb publication page