Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.T176R
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BTD

NM_001370658.1:p.T176R

Associated Papers

Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.

Azizinejad F et al.

Gene, 2025

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Yılmaz B et al.

European Journal of Pediatrics, 2024

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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."