Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.K400*
Back to variants list

BCKDHA

NM_000709.4:p.K400*

Associated Papers

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Other_rare_groups

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."