Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L446P
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BTD

NM_001370658.1:p.L446P

Associated Papers

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.

Silva GCV et al.

Genetics and Molecular Biology, 2022

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.

Al-Eitan LN et al.

Journal of Personalized Medicine, 2020

Effect of BTD gene variants on in vitro biotinidase activity.

Borsatto T et al.

Molecular Genetics and Metabolism, 2019

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Borsatto T et al.

Plos One, 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."