DMD c.668C>A ;(p.P223Q)

Variant ID: X-32717392-G-T

NM_004006.2(DMD):c.668C>A;(p.P223Q)

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: P223Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Plos One
Córdoba, Marta M; Rodriguez-Quiroga, Sergio Alejandro SA; Vega, Patricia Analía PA; Salinas, Valeria V; Perez-Maturo, Josefina J; Amartino, Hernán H; Vásquez-Dusefante, Cecilia C; Medina, Nancy N; González-Morón, Dolores D; Kauffman, Marcelo Andrés MA
Publication Date: 2018

Variant appearance in text: DMD: 668C>A
PubMed Link: 29389947
Variant Present in the following documents:
  • Main text
  • pone.0191228.pdf
View BVdb publication page