Variant ID: 1-55529227-C-T

NM_174936.3(PCSK9):c.2049C>T;(p.H683=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.

Jacc. Basic To Translational Science
Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Fernandez-Higuero, José A JA; Jebari-Benslaiman, Shifa S; Galicia-Garcia, Unai U; Uribe, Kepa B KB; Cenarro, Ana A; Ostolaza, Helena H; Civeira, Fernando F; Arrasate, Sonia S; González-Díaz, Humberto H; Martín, César C
Publication Date: 2021-11

Variant appearance in text: PCSK9: 2049C>T
PubMed Link: 34869944
Variant Present in the following documents:
  • main.pdf
View BVdb publication page