Varaico: Literature-Extracted Genetic Variants

Gene:BET1
Variant:p.D68H
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BET1

NM_005868.6:p.D68H

Associated Papers

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Research Square, 2026

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Donkervoort S et al.

Embo Molecular Medicine, 2021

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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."