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PNPLA5 c.297G>T ;(p.Q99H)
Variant ID: 22-44287071-C-A
NM_138814.3(
PNPLA5
):c.297G>T;(p.Q99H)
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:
Genes Potentially Associated with Familial Hypercholesterolemia.
Biomolecules
Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E
Publication Date: 2019-11-29
Variant appearance in text: PNPLA5: Gln99His
PubMed Link:
31795497
Variant Present in the following documents:
Main text
biomolecules-09-00807.pdf
View BVdb publication page