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LPL c.478C>T ;(p.L160F)
Variant ID: 8-19810869-C-T
NM_000237.2(
LPL
):c.478C>T;(p.L160F)
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:
Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase.
Journal Of Postgraduate Medicine
Shah, M H MH; Roshan, R R; Desai, R R; Kadam, S S SS
Publication Date: 2018
Variant appearance in text: LPL: Leu160Phe
PubMed Link:
30147083
Variant Present in the following documents:
Main text
View BVdb publication page