Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.A243T
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BEST2

NM_017682.3:p.A243T

Associated Papers

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5.

Mcleay L et al.

Genes, 2025

41300820 (PubMed )
Supplement: genes-16-01369-s001.zip › Supplementary_Table_S1._Unique_High_and_Moderate_Variants.xlsx › unique_vars

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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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."