Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q1087fs
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DMD

NM_004006.3:p.Q1087fs

Associated Papers

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

Zhao L et al.

Orphanet Journal of Rare Diseases, 2024

39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx

Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

Nagabushana D et al.

Journal of Neuromuscular Diseases, 2021

Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Okubo M et al.

Journal of Human Genetics, 2017

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Okubo M et al.

Journal of Human Genetics, 2016

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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."