Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.H33H
Back to variants list

BTD

NM_001370658.1:p.H33H

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

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Kannan B et al.

Journal of Pediatric Genetics, 2023

The Biotinidase Gene Variants Registry: A Paradigm Public Database.

Procter M et al.

G3 (bethesda, Md.), 2013

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

Wolf B et al.

Human Mutation, 2005

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."