Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.D112N
Back to variants list

PC

NM_001040716.2:p.D112N

Associated Papers

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Maguolo A et al.

Frontiers in Pediatrics, 2021

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

László A et al.

Journal of Inherited Metabolic Disease, 2003

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."