Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N182delFs
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BTD

NM_001370658.1:p.N182delFs

Associated Papers

Analysis of mutations causing biotinidase deficiency.

Pindolia K et al.

Human Mutation, 2010

Profound biotinidase deficiency in a child with predominantly spinal cord disease.

Chedrawi AK et al.

Journal of Child Neurology, 2008

Mutations in BTD causing biotinidase deficiency.

Hymes J et al.

Human Mutation, 2001

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

Pomponio RJ et al.

Journal of Inherited Metabolic Disease, 2000

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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."