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.




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