Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S414_Y418del0
Back to variants list

BTD

NM_001370658.1:p.S414_Y418del0

Associated Papers

Analysis of mutations causing biotinidase deficiency.

Pindolia K et al.

Human Mutation, 2010

Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.

Sharma R et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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."