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VANGL1 c.249G>T ;(p.S83=)
Variant ID: 1-116206326-G-T
NM_138959.2(
VANGL1
):c.249G>T;(p.S83=)
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:
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Bmc Musculoskeletal Disorders
Li, Ziquan Z; Zhao, Sen S; Cai, Siyi S; Zhang, Yuanqiang Y; Wang, Lianlei L; Niu, Yuchen Y; Li, Xiaoxin X; Hu, Jianhua J; Chen, Jingdan J; Wang, Shengru S; Wang, Huizi H; Liu, Gang G; Tian, Ye Y; Wu, Zhihong Z; Zhang, Terry Jianguo TJ; , ; Wang, Yipeng Y; Wu, Nan N
Publication Date: 2020-04-11
Variant appearance in text: VANGL1: Ser83=
PubMed Link:
32278351
Variant Present in the following documents:
Main text
View BVdb publication page