Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.A765fs
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DMD

NM_004006.3:p.A765fs

Associated Papers

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2024

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Santos R et al.

Journal of Human Genetics, 2014

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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."