Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.P332L
Back to variants list

BCKDHB

NM_183050.4:p.P332L

Associated Papers

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Wild KT et al.

Genetics in Medicine Open, 2026

41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1

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

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Mengler K et al.

Pediatrics, 2024

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Salman DO et al.

Frontiers in Genetics, 2022

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

Khalifa OA et al.

American Journal of Medical Genetics. Part A, 2020

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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."