Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E767fs
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DMD

NM_004006.3:p.E767fs

Associated Papers

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.

Dulla K et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2021

USH2A-retinopathy: From genetics to therapeutics.

Toualbi L et al.

Experimental Eye Research, 2020

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

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD et al.

American Journal of Human Genetics, 2000

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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."