Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q133_V134Splc
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EMD

NM_000117.3:p.Q133_V134Splc

Associated Papers

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.

Rahmuni Y et al.

Molecular Genetics & Genomic Medicine, 2026

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.

Rahmuni Y et al.

Molecular Syndromology, 2024

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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."