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P27 Gene2Phenotype: accelerating diagnostic variant filtering with high quality, detailed gene-disease associations

jmedgenet · abstract · 2026-01-28 · 1 matching annotations

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South East Scotland Genetic Service National Genomic Test Directory cancer Developmental disorders

…otypes obtained from genomic sequencing. VEP-G2P is used in the South East Scotland Genetic Service, with knowledge from G2P, to support rapid, robust identificati…

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National Genomic Test Directory

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P27 Gene2Phenotype: accelerating diagnostic variant filtering with high quality, detailed gene-disease associations