Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer

Congenit Anom (Kyoto) · 2025 · PMC12270995

Europe PMC

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highly significantno p-value reported

Given that endoscopic screening of the gastrointestinal tract is relatively costly and invasive, the ability to rule out SMAD4 variants (JP‐HHT) is highly significant. 4.

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