DMD c.9808G>C ;(p.A3270P)

Variant ID: X-31201021-C-G

NM_004006.2(DMD):c.9808G>C;(p.A3270P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: A3270P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: A3270P
PubMed Link: 25937795
Variant Present in the following documents:
  • Main text
  • bjmg-17-02-25.pdf
View BVdb publication page



Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Journal Of Child Neurology
Cunniff, Christopher C; Andrews, Jennifer J; Meaney, F John FJ; Mathews, Katherine D KD; Matthews, Dennis D; Ciafaloni, Emma E; Miller, Timothy M TM; Bodensteiner, John B JB; Miller, Lisa A LA; James, Katherine A KA; Druschel, Charlotte M CM; Romitti, Paul A PA; Pandya, Shree S
Publication Date: 2009-04

Variant appearance in text: DMD: 9808G>C
PubMed Link: 19074751
Variant Present in the following documents:
  • Main text
View BVdb publication page