PLD2 c.98G>T ;(p.G33V)

Variant ID: 17-4711165-G-T

NM_002663.4(PLD2):c.98G>T;(p.G33V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: PLD2: 98G>T; Gly33Val
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
  • MGG3-7-e931.pdf
View BVdb publication page