Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.I341N
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BCKDHB

NM_183050.4:p.I341N

Associated Papers

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D et al.

European Journal of Medical Genetics, 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."