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TG c.1048_1049delinsTA ;(p.R350*)
Variant ID: 8-133895217-CG-TA
NM_003235.4(
TG
):c.1048_1049delinsTA;(p.R350*)
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:
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01
Variant appearance in text: TG: R350X
PubMed Link:
33994402
Variant Present in the following documents:
jat-29-639.pdf
View BVdb publication page