Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.Q83*
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BCAP31

NM_001256447.2:p.Q83*

Associated Papers

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Suh YA et al.

Frontiers in Pediatrics, 2024

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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."