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LDLR c.550_551delinsCT ;(p.C184L)
Variant ID: 19-11216132-TG-CT
NM_000527.4(
LDLR
):c.550_551delinsCT;(p.C184L)
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 curation of genetic variants: difficulties and possible solutions.
Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12
Variant appearance in text: LDLR: C184L
PubMed Link:
23317699
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page