Variant ID: 1-55505552-A-AATGCTG


This variant was identified in 1 publication

View GRCh38 version.


Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: rs371488778
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
View BVdb publication page