Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.R170G
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BCKDHB

NM_183050.4:p.R170G

Associated Papers

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

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.

Zhang R et al.

Bmc Pediatrics, 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."