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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDFT1

Variant:p.R203_S206Fs

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FDFT1

NM_004462.5:p.R203_S206Fs

hg38:chr8:11826120 CGTGCCAACTC>T

Associated Papers

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.

Saito S et al.

American Journal of Human Genetics, 2024

38653249 (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."