Varaico: Literature-Extracted Genetic Variants

Gene:BDP1
Variant:p.Q703*
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BDP1

NM_018429.3:p.Q703*

Associated Papers

Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.

Tsai MM et al.

Human Molecular Genetics, 2026

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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."