Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q453P
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BTD

NM_001370658.1:p.Q453P

Associated Papers

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

László A et al.

Journal of Inherited Metabolic Disease, 2003

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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."