Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.3988_3989insGAGGTGATGGGATACCTTACCC ;(p.F1330*)
Variant ID: 2-166866242-A-AGGGTAAGGTATCCCATCACCTC
NM_001165963.1(
SCN1A
):c.3988_3989insGAGGTGATGGGATACCTTACCC;(p.F1330*)
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:
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Epilepsy & Behavior Reports
Zaganas, Ioannis I; Vorgia, Pelagia P; Spilioti, Martha M; Mathioudakis, Lambros L; Raissaki, Maria M; Ilia, Stavroula S; Giorgi, Melpomeni M; Skoula, Irene I; Chinitrakis, Georgios G; Michaelidou, Kleita K; Paraskevoulakos, Evangelos E; Grafakou, Olga O; Kariniotaki, Chariklia C; Psyllou, Thekla T; Zafeiris, Spiros S; Tzardi, Maria M; Briassoulis, George G; Dinopoulos, Argirios A; Mitsias, Panayiotis P; Evangeliou, Athanasios A
Publication Date: 2021
Variant appearance in text: SCN1A: 3988_3989insGAGGTGATGGGATACCTTACCC; Phe1330Ter
PubMed Link:
34568804
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page