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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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