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SCN1A c.564del ;(p.P189Hfs*27)
Variant ID: 2-166911186-GA-G
NM_001165963.1(
SCN1A
):c.564del;(p.P189Hfs*27)
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 Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Journal Of Epilepsy Research
Rahman, Md Mizanur MM; Fatema, Kanij K
Publication Date: 2021-06
Variant appearance in text: SCN1A: 564del
PubMed Link:
34395220
Variant Present in the following documents:
Main text
jer-21004.pdf
View BVdb publication page