Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y172C
Back to variants list

BTD

NM_001370658.1:p.Y172C

Associated Papers

Analysis of mutations causing biotinidase deficiency.

Pindolia K et al.

Human Mutation, 2010

Mutations in BTD causing biotinidase deficiency.

Hymes J et al.

Human Mutation, 2001

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Mühl A et al.

European Journal of Human Genetics : Ejhg, 2001

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."