Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S50N
Back to variants list

BTD

NM_001370658.1:p.S50N

Associated Papers

Biotinidase deficiency presenting with status epilepticus and cerebellar infarction in an infant: a case report.

Shrestha B et al.

Annals of Medicine and Surgery (2012), 2025

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Maier EM et al.

Journal of Inherited Metabolic Disease, 2023

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."