Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.A293T
Back to variants list

CPOX

NM_000097.7:p.A293T

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

Etiology of neonatal cholestasis after emerging molecular diagnostics.

Wang H et al.

Translational Pediatrics, 2022

35378957 (PubMed )
Supplement: tp-11-03-359-supplementary.pdf

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Borrero Corte MJ et al.

European Journal of Medical Genetics, 2019

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."