Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.Q212_A213Splc
Back to variants list

UROD

NM_000374.5:p.Q212_A213Splc

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.

Aarsand AK et al.

Clinical Chemistry, 2009

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."