Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R518H
Back to variants list

BTD

NM_001370658.1:p.R518H

Associated Papers

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

41007772 (PubMed )
Supplement: biomedicines-13-02210-s001.zip › biomedicines-3684120_BTD_Table_S1.xlsx › SNPs

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.

Zioudi A et al.

Case Reports in Neurological Medicine, 2025

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.

Gowda VK et al.

Advanced Biomedical Research, 2023

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

Dupuis L et al.

Human Molecular Genetics, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."