Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.K192_H193ins4
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BTD

NM_001370658.1:p.K192_H193ins4

Associated Papers

BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.

Oz O et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.

Seker Yilmaz B et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

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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."