Varaico: Literature-Extracted Genetic Variants

Gene:LCN2
Variant:p.A57A
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LCN2

NM_005564.5:p.A57A

Associated Papers

Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.

Mikati MA et al.

Journal of Child Neurology, 2006

Biotinidase Deficiency: New Directions and Practical Concerns.

Wolf B

Current Treatment Options in Neurology, 2003

Mutations in BTD causing biotinidase deficiency.

Hymes J et al.

Human Mutation, 2001

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Mühl A et al.

European Journal of Human Genetics : Ejhg, 2001

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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."