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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTGES3

Variant:p.S82F

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PTGES3

NM_006601.7:p.S82F

hg38:chr12:56671789 G>A

Associated Papers

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L et al.

Human Mutation, 2002

11857752 (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."