Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.H96_L97Splc
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BCKDHA

NM_000709.4:p.H96_L97Splc

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

A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.

Rezaie N et al.

Molecular Biology Research Communications, 2024

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Billington CJ et al.

American Journal of Medical Genetics. Part A, 2022

35799415 (PubMed )
Supplement: AJMG-188-2738-s001.docx

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.

Abiri M et al.

Mutation Research, 2016

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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."