Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABCA4 c.4734_4739delinsCC ;(p.F1579Qfs*8)
Variant ID: 1-94487436-AAAAAC-GG
NM_000350.2(
ABCA4
):c.4734_4739delinsCC;(p.F1579Qfs*8)
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 characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Scientific Reports
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M
Publication Date: 2022-03-08
Variant appearance in text: ABCA4: 4734_4739delinsCC
PubMed Link:
35260635
Variant Present in the following documents:
41598_2022_Article_7618.pdf
View BVdb publication page