Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q790*
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DMD

NM_004006.3:p.Q790*

Associated Papers

Efficient precise in vivo base editing in adult dystrophic mice.

Xu L et al.

Nature Communications, 2021

34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.

Arribas-Carreira L et al.

Stem Cell Research, 2019

Comprehensive genetic characteristics of dystrophinopathies in China.

Ma P et al.

Orphanet Journal of Rare Diseases, 2018

29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

Prior TW et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."