Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R189C
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BTD

NM_001370658.1:p.R189C

Associated Papers

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.

Yalçın G et al.

Journal of Clinical Medicine, 2025

Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.

Ibrahim FE et al.

Biomedicines, 2025

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

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Çıkı K et al.

The Turkish Journal of Pediatrics, 2024

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

Yılmaz B et al.

European Journal of Pediatrics, 2024

A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.

Yaralı O et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 0

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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."