Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.L194R
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BCKDHB

NM_183050.4:p.L194R

Associated Papers

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.

Ali EZ et al.

Molecular Genetics and Metabolism Reports, 2018

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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."