DMD c.2172G>C ;(p.L724F)

Variant ID: X-32536245-C-G

NM_004006.2(DMD):c.2172G>C;(p.L724F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DMD: L724F
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.

Balkan Journal Of Medical Genetics : Bjmg
Milic Rasic, V V; Vojinovic, D D; Pesovic, J J; Mijalkovic, G G; Lukic, V V; Mladenovic, J J; Kosac, A A; Novakovic, I I; Maksimovic, N N; Romac, S S; Todorovic, S S; Savic Pavicevic, D D
Publication Date: 2014-12

Variant appearance in text: DMD: L724F
PubMed Link: 25937795
Variant Present in the following documents:
  • Main text
  • bjmg-17-02-25.pdf
View BVdb publication page