Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.I1974_H1975Splc
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DMD

NM_004006.3:p.I1974_H1975Splc

Associated Papers

Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.

Ling C et al.

Iscience, 2023

38047063 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Kong X et al.

Bmc Medical Genetics, 2019

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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."