Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.A202T
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BCKDHB

NM_183050.4:p.A202T

Associated Papers

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Tejedor JR et al.

Journal of Inherited Metabolic Disease, 2025

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 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."