DMD c.427T>C ;(p.W143R)

Variant ID: X-32834688-A-G

NM_004006.2(DMD):c.427T>C;(p.W143R)

This variant was identified in 2 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: W143R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research
Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P
Publication Date: 2015

Variant appearance in text: DMD: 427T>C
PubMed Link: 26594346
Variant Present in the following documents:
  • Main text
  • f1000research-4-7471.pdf
View BVdb publication page