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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FECH

Variant:p.Q122fs

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FECH

NM_000140.5:p.Q122fs

hg38:chr18:57571491 CTG>N

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

37539993 (PubMed )

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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."