Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.D217Splc
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DMD

NM_004006.3:p.D217Splc

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

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Wang L et al.

Frontiers in Genetics, 2019

30833962 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Jang SS et al.

Scientific Reports, 2018

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Yoo SK et al.

Clinical Chemistry, 2015

A population-based study of dystrophin mutations in Canada.

Mah JK et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011

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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."