Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.Q280_V281Splc
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BCKDHB

NM_183050.4:p.Q280_V281Splc

Associated Papers

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Sulaiman RA et al.

Orphanet Journal of Rare Diseases, 2025

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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."