Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G288fs
Back to variants list

BCKDHA

NM_000709.4:p.G288fs

Associated Papers

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Younes S et al.

Bmc Medical Genomics, 2025

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

Khalifa OA et al.

American Journal of Medical Genetics. Part A, 2020

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Stojiljkovic M et al.

Clinical Genetics, 2016

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."