Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E44_H45del2
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BTD

NM_001370658.1:p.E44_H45del2

Associated Papers

The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.

Johnston JJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."