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    • MOOC “bioinformatics”

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    • Training exchanges

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Home > Our Research Activities > List Of Publications > Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes – in pediatric patients screened with NGS panels

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes – in pediatric patients screened with NGS panels

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QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
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