Re‐evaluation of missense variant classifications in NF2
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DOI: 10.1002/humu.24370
Abstract: Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary… read more here.
Keywords: missense; variant classifications; pathology; missense variants ... See more keywords