DMD c.164A>G ;(p.E55G)

Variant ID: X-32867867-T-C

NM_004006.2(DMD):c.164A>G;(p.E55G)

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: E55G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.

The American Journal Of Pathology
Fernandez, Karen K; Serinagaoglu, Yelda Y; Hammond, Sue S; Martin, Laura T LT; Martin, Paul T PT
Publication Date: 2010-01

Variant appearance in text: DMD: E55G
PubMed Link: 20019182
Variant Present in the following documents:
  • Main text
View BVdb publication page