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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDPS

Variant:p.E113_V114Splc

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FDPS

NM_002004.4:p.E113_V114Splc

hg38:chr1:155312253 A>G

Associated Papers

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

Yang Y et al.

The British Journal of Dermatology, 2026

41240373 (PubMed )

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