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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMED3

Variant:p.F191L

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TMED3

NM_007364.4:p.F191L

hg38:chr15:79322131 T>C

Associated Papers

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

Rüfenacht UB et al.

American Journal of Human Genetics, 1998

9585598 (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."