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ABCA4 c.3329-23_3364del
Variant ID: 1-94506923-TCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAA-T
NM_000350.2(
ABCA4
):c.3329-23_3364del
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 spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11
Variant appearance in text: STGD1: 3033_3364del
PubMed Link:
32278709
Variant Present in the following documents:
Main text
nihms-1627942.pdf
View BVdb publication page