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TG c.3641_3642delinsAT ;(p.R1214H)
Variant ID: 8-133918939-GG-AT
NM_003235.4(
TG
):c.3641_3642delinsAT;(p.R1214H)
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:
Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.
Hepatology (Baltimore, Md.)
Ramirez, Ruben R; Cohen, Jonathan C JC; Hobbs, Helen H HH; Browning, Jeffrey D JD
Publication Date: 2011-08
Variant appearance in text: TG: R1214H
PubMed Link:
21626528
Variant Present in the following documents:
Main text
View BVdb publication page