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ABCA4 c.6148-489C>T
Variant ID: 1-94468037-G-A
NM_000350.2(
ABCA4
):c.6148-489C>T
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:
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Méjécase, Cécile C; Varin, Juliette J; Wohlschlegel, Juliette J; Dhaenens, Claire-Marie CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2019-10-11
Variant appearance in text: ABCA4: 6148-489C>T; rs894440427
PubMed Link:
31614660
Variant Present in the following documents:
Main text
ijms-20-05053.pdf
View BVdb publication page