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Assessment of Gene–disease Associations and Recommendations for Genetic Testing for Somatic Variants in Vascular Anomalies by VASCERN-VASCA

Nicole Revencu,Astrid Eijkelenboom,Claire Bracquemart, Pia Alhopuro,Judith Armstrong,Eulalia Baselga,Claudia Cesario,Maria Lisa Dentici,Melanie Eyries,Sofia Frisk,Helena Gásdal Karstensen,Nagore Gene‑Olaciregui, Sirpa Kivirikko,Cinzia Lavarino,Inger‑Lise Mero, Rodolphe Michiels,Elisa Pisaneschi,Bitten Schönewolf‑Greulich,Ilse Wieland,Martin Zenker,Miikka Vikkula

ORPHANET JOURNAL OF RARE DISEASES（2024）

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关键词
ERN,Gene curation,ISSVA,Mosaic,Precision medicine,Postzygotic,Somatic,VASCERN-VASCA,Vascular malformation
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