Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L40_L41del2
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BEST1

NM_004183.4:p.L40_L41del2

Associated Papers

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Barbarii T et al.

Genes, 2025

41595432 (PubMed )
Supplement: genes-17-00012-s001.zip › Supplementary_Table_S1_-_Genotype_and_phenotype_data.xlsx › Foaie1

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Massouridès E et al.

Skeletal Muscle, 2015

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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."