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ABCA4 c.2382+179G>A
Variant ID: 1-94521978-C-T
NM_000350.2(
ABCA4
):c.2382+179G>A
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:
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Jci Insight
Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2022-01-25
Variant appearance in text: ABCA4: 2382+179G>A
PubMed Link:
34874912
Variant Present in the following documents:
jciinsight-7-156154.pdf
jciinsight-7-156154-s174.xlsx, sheet 1
View BVdb publication page