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GRIN2A c.2094T>G ;(p.Y698*)
Variant ID: 16-9916195-A-C
NM_001134407.1(
GRIN2A
):c.2094T>G;(p.Y698*)
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:
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
Frontiers In Pediatrics
Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L
Publication Date: 2020
Variant appearance in text: GRIN2A: 2094T>G
PubMed Link:
33240831
Variant Present in the following documents:
Main text
fped-08-574803.pdf
View BVdb publication page