Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.K267K
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EPX

NM_000502.6:p.K267K

Associated Papers

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.

Granata F et al.

Frontiers in Physiology, 2022

35923227 (PubMed )
Supplement: DataSheet1.pdf

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.

Dickey AK et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32873934 (PubMed )
Supplement: NIHMS1630820-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

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