Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.K770*
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DMD

NM_004006.3:p.K770*

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

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.

Niba ETE et al.

Life (basel, Switzerland), 2021

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Xu Y et al.

Journal of Clinical Laboratory Analysis, 2018

Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Yamamoto T et al.

Circulation. Genomic and Precision Medicine, 2018

29874176 (PubMed )
Supplement: hcg-11-e001782-s001.pdf

A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Li X et al.

Orphanet Journal of Rare Diseases, 2015

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

Eraslan S et al.

European Journal of Human Genetics : Ejhg, 0

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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."