Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.L171fs
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BCKDHA

NM_000709.4:p.L171fs

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

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Lakkhana P et al.

Orphanet Journal of Rare Diseases, 2024

Newborn screening of maple syrup urine disease and the effect of early diagnosis.

Chen T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

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

Khalifa OA et al.

American Journal of Medical Genetics. Part A, 2020

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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."