Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHB
Variant:p.G278_T279ins0
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BCKDHB

NM_183050.4:p.G278_T279ins0

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

Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.

Abiri M et al.

Metabolic Brain Disease, 2019

In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

Abiri M et al.

Metabolic Brain Disease, 2017

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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."