Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q136delFs
Back to variants list

BTD

NM_001370658.1:p.Q136delFs

Associated Papers

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

Kannan B et al.

Journal of Pediatric Genetics, 2023

Forty-eight novel mutations causing biotinidase deficiency.

Procter M et al.

Molecular Genetics and Metabolism, 2016

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Milánkovics I et al.

Journal of Inherited Metabolic Disease, 2010

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."