Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E454A
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BTD

NM_001370658.1:p.E454A

Associated Papers

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Kannan B et al.

Journal of Pediatric Genetics, 2023

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

Al-Eitan LN et al.

Journal of Personalized Medicine, 2020

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B et al.

Human Mutation, 2005

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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."