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Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

2025-08-27

Abstract excerpt

<h4>Introduction</h4> The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the VHL gene, including phenotype-driven and evidence-based criteria, somatic and germline mutational hotspots, functional and in-silico data. <h4>Materials and Methods</h4> Using the American College of Medical Genetics and Genomi...

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Literature Corpus work
865e107a-b3a7-51a4-a6f8-3386a3087ce3
DOI
10.1101/2025.08.25.25334371
Open publication

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Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) DiseaseDOI 10.1101/2025.08.25.25334371
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