Article

Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information

2020-10-26

Abstract excerpt

<h4>Background</h4> Neurofibromatosis Type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple schwannomas, particularly at vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) helps predicting the disease course from germline NF2 pathogenic variants, optimizing the clinical follow-up and the genetic counselling offered to affected families. <h4>Methods</h4...

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Literature Corpus work: 96d006b5-263f-5ab7-bbf2-eea4a03b1f42
DOI: 10.1101/2020.10.22.20216614

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