Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.P170S
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BCKDHA

NM_000709.4:p.P170S

Associated Papers

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

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.

Li X et al.

Metabolic Brain Disease, 2018

[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].

Yang N et al.

Zhonghua Yi Xue Za Zhi, 2012

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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."