LDLR c.661_663del ;(p.D221del)

Variant ID: 19-11216241-CCGA-C

NM_000527.4(LDLR):c.661_663del;(p.D221del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; GarcĂ­a-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: LDLR: Asp221del
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
  • jcdd-07-00016.pdf
  • jcdd-07-00016-s001.pdf
View BVdb publication page