Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.T6insFs
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BEST1

NM_004183.4:p.T6insFs

Associated Papers

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

De Palma FDE et al.

Diagnostics (basel, Switzerland), 2021

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.

Ling C et al.

Human Mutation, 2020

31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
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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."