Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.D311H
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BCKDHB

NM_183050.4:p.D311H

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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."