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clinical genetic laboratories

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clinical genetic laboratories1

Articles mentioning clinical genetic laboratories

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Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort

jmedgenet · abstract · 2025-11-21 · 1 matching annotations

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clinical genetic laboratories juvenile polyposis syndrome (JPS)Hereditary haemorrhagic telangiectasia (HHT)

…s of hetero-oligomerisation. This assay will be transferable to clinical genetic laboratories and will improve the diagnosis of patients with HHT–JPS.…

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clinical genetic laboratories

Articles mentioning clinical genetic laboratories

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort