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LDLR c.2533_2534delinsGC ;(p.Y845A)
Variant ID: 19-11240332-TA-GC
NM_000527.4(
LDLR
):c.2533_2534delinsGC;(p.Y845A)
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:
The adaptor protein-1 μ1B subunit expands the repertoire of basolateral sorting signal recognition in epithelial cells.
Developmental Cell
Guo, Xiaoli X; Mattera, Rafael R; Ren, Xuefeng X; Chen, Yu Y; Retamal, Claudio C; González, Alfonso A; Bonifacino, Juan S JS
Publication Date: 2013-11-11
Variant appearance in text: LDLR: Y845A
PubMed Link:
24229647
Variant Present in the following documents:
Main text
View BVdb publication page