Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.P307P
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FECH

NM_000140.5:p.P307P

Associated Papers

Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.

Li P et al.

Blood Advances, 2021

33570620 (PubMed )
Supplement: advancesadv2020003150-suppl1.pdf

Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.

Schneider-Yin X et al.

The Journal of Investigative Dermatology, 2001

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB et al.

American Journal of Human Genetics, 1998

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.

Long ZB et al.

Journal of Zhejiang University. Science. B, 0

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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."