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ABCA4 c.371G>T ;(p.R124L)
Variant ID: 1-94574204-C-A
NM_000350.2(
ABCA4
):c.371G>T;(p.R124L)
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:
Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25
Variant appearance in text: ABCA4: Arg124Leu
PubMed Link:
33988224
Variant Present in the following documents:
Main text
bsr-41-bsr20203497.pdf
View BVdb publication page