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ABCA1 c.1779C>G ;(p.F593L)
Variant ID: 9-107593319-G-C
NM_005502.3(
ABCA1
):c.1779C>G;(p.F593L)
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:
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
The Journal Of Biological Chemistry
Quazi, Faraz F; Molday, Robert S RS
Publication Date: 2013-11-29
Variant appearance in text: ABCA1: F593L
PubMed Link:
24097981
Variant Present in the following documents:
Main text
View BVdb publication page