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LDLR c.1015_1017delinsGAC ;(p.L339D)
Variant ID: 19-11221402-CTG-GAC
NM_000527.4(
LDLR
):c.1015_1017delinsGAC;(p.L339D)
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 PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.
Global Cardiology Science & Practice
Seidah, Nabil G NG
Publication Date: 2017-03-31
Variant appearance in text: LDLR: L339D
PubMed Link:
28971102
Variant Present in the following documents:
Main text
gcsp-2017-1-e201702.pdf
View BVdb publication page