LDLRAP1 c.748dup ;(p.E250Gfs*4)

Variant ID: 1-25891662-A-AG

NM_015627.2(LDLRAP1):c.748dup;(p.E250Gfs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: LDLRAP1: Glu250Glyfs*4
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page