Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E457Q
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BTD

NM_001370658.1:p.E457Q

Associated Papers

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Karaca M et al.

European Journal of Pediatrics, 2015

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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."