Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E339K
Back to variants list

PPOX

NM_001122764.3:p.E339K

Associated Papers

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Kaiser N et al.

Orphanet Journal of Rare Diseases, 2025

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family.

Al-Hage J et al.

Clinical and Experimental Dermatology, 2020

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."