Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.G115Splc
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BCKDHB

NM_183050.4:p.G115Splc

Associated Papers

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.

Liu G et al.

Frontiers in Genetics, 2018

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P et al.

Human Mutation, 2006

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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."