ROPN1L c.594-853C>T

Variant ID: 5-10464107-C-T

NM_031916.4(ROPN1L):c.594-853C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs2967951
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study.

Frontiers In Genetics
de Toro-Martín, Juan J; Guénard, Frédéric F; Bouchard, Claude C; Tremblay, Angelo A; Pérusse, Louis L; Vohl, Marie-Claude MC
Publication Date: 2019

Variant appearance in text: rs2967951
PubMed Link: 31649740
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page