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LDLR c.754_755delinsGC ;(p.S252A)
Variant ID: 19-11217300-AG-GC
NM_000527.4(
LDLR
):c.754_755delinsGC;(p.S252A)
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:
iPLA2β and its role in male fertility, neurological disorders, metabolic disorders, and inflammation.
Biochimica Et Biophysica Acta. Molecular And Cell Biology Of Lipids
Turk, John J; White, Tayleur D TD; Nelson, Alexander J AJ; Lei, Xiaoyong X; Ramanadham, Sasanka S
Publication Date: 2019-06
Variant appearance in text: LDLR: S252A
PubMed Link:
30408523
Variant Present in the following documents:
Main text
View BVdb publication page