DMD c.295_296delinsCA ;(p.I99H)

Variant ID: X-32841473-AT-TG

NM_004006.2(DMD):c.295_296delinsCA;(p.I99H)

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: I99H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Nonnative SOD1 trimer is toxic to motor neurons in a model of amyotrophic lateral sclerosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Proctor, Elizabeth A EA; Fee, Lanette L; Tao, Yazhong Y; Redler, Rachel L RL; Fay, James M JM; Zhang, Yuliang Y; Lv, Zhengjian Z; Mercer, Ian P IP; Deshmukh, Mohanish M; Lyubchenko, Yuri L YL; Dokholyan, Nikolay V NV
Publication Date: 2016-01-19

Variant appearance in text: DMD: I99H
PubMed Link: 26719414
Variant Present in the following documents:
  • Main text
View BVdb publication page