Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.L196L
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DMD

NM_004006.3:p.L196L

Associated Papers

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

Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target.

Larose H et al.

Haematologica, 2021

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Cunniff C et al.

Journal of Child Neurology, 2009

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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."