Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.D145Splc
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DBT

NM_001918.5:p.D145Splc

Associated Papers

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.

Erdal R et al.

Metabolites, 2025

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.

Yang X et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

Newborn screening of maple syrup urine disease and the effect of early diagnosis.

Chen T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

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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."