Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y43C
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BTD

NM_001370658.1:p.Y43C

Associated Papers

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

Kannan B et al.

Journal of Pediatric Genetics, 2023

Forty-eight novel mutations causing biotinidase deficiency.

Procter M et al.

Molecular Genetics and Metabolism, 2016

The Biotinidase Gene Variants Registry: A Paradigm Public Database.

Procter M et al.

G3 (bethesda, Md.), 2013

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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."