DMD c.683T>A ;(p.I228N)

Variant ID: X-32717377-A-T

NM_004006.2(DMD):c.683T>A;(p.I228N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Contractility of Induced Pluripotent Stem Cell-Cardiomyocytes With an MYH6 Head Domain Variant Associated With Hypoplastic Left Heart Syndrome.

Frontiers In Cell And Developmental Biology
Kim, Min-Su MS; Fleres, Brandon B; Lovett, Jerrell J; Anfinson, Melissa M; Samudrala, Sai Suma K SSK; Kelly, Lauren J LJ; Teigen, Laura E LE; Cavanaugh, Matthew M; Marquez, Maribel M; Geurts, Aron M AM; Lough, John W JW; Mitchell, Michael E ME; Fitts, Robert H RH; Tomita-Mitchell, Aoy A
Publication Date: 2020

Variant appearance in text: DMD: I228N
PubMed Link: 32656206
Variant Present in the following documents:
  • Main text
  • fcell-08-00440.pdf
  • Data_Sheet_1.pdf
View BVdb publication page



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: I228N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page