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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FECH

Variant:p.S268_V269Splc

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FECH

NM_000140.5:p.S268_V269Splc

hg38:chr18:57559144 C>G

Associated Papers

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.

Yang T et al.

Frontiers in Medicine, 2025

41080930 (PubMed )

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