Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Y205*
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DMD

NM_004006.3:p.Y205*

Associated Papers

Structural and functional bases of F. rodentium Cas9 provide insights into CRISPR-Cas protein engineering.

Yang M et al.

Cell Genomics, 2026

A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.

Chen CC et al.

Biomedicines, 2023

37238980 (PubMed )
Supplement: biomedicines-11-01310-s001.zip › Table_S1.xlsx › ___1

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

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

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N et al.

Human Mutation, 2007

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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."