Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCKDHA

Variant:p.V303insFs

Back to variants list

BCKDHA

NM_000709.4:p.V303insFs

hg38:chr19:41422683 T>TA

Associated Papers

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.

Khalifa OA et al.

American Journal of Medical Genetics. Part A, 2020

32812330 (PubMed )

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."