Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.W310*
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FECH

NM_000140.5:p.W310*

Associated Papers

Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.

Portich JP et al.

Journal of Pediatric Hematology/oncology, 2023

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.

Colombo FP et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Wahlin S et al.

Journal of Internal Medicine, 2011

Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis.

Wahlin S et al.

Journal of Hepatology, 2007

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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."