DARS c.960-86T>C

Variant ID: 2-136674028-A-G

NM_001349.2(DARS):c.960-86T>C

This variant was identified in 3 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: rs309172
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs309172
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

Plos One
Volkov, Petr P; Olsson, Anders H AH; Gillberg, Linn L; Jørgensen, Sine W SW; Brøns, Charlotte C; Eriksson, Karl-Fredrik KF; Groop, Leif L; Jansson, Per-Anders PA; Nilsson, Emma E; Rönn, Tina T; Vaag, Allan A; Ling, Charlotte C
Publication Date: 2016

Variant appearance in text: rs309172
PubMed Link: 27322064
Variant Present in the following documents:
  • Main text
  • pone.0157776.pdf
View BVdb publication page