Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R40fs
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BCKDHA

NM_000709.4:p.R40fs

Associated Papers

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Mengler K et al.

Pediatrics, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

Couce ML et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015

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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."