LDLR c.325_337del ;(p.C109Sfs*93)

Variant ID: 19-11215902-AGACGTGCTCCCAG-A

NM_000527.4(LDLR):c.325_337del;(p.C109Sfs*93)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2015

Variant appearance in text: LDLR: 321_333del; C109Sfs
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
  • pone.0126706.pdf
View BVdb publication page