Re‐evaluation of missense variant classifications in NF2

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 of NF2 missense variants, with variant classifications based...

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Detalles Bibliográficos
Autores principales: Sadler, Katherine V., Rowlands, Charlie F., Smith, Philip T., Hartley, Claire L., Bowers, Naomi L., Roberts, Nicola Y., Harris, Jade L., Wallace, Andrew J., Evans, D. Gareth, Messiaen, Ludwine M., Smith, Miriam J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323416/
https://www.ncbi.nlm.nih.gov/pubmed/35332608
http://dx.doi.org/10.1002/humu.24370

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323416/
https://www.ncbi.nlm.nih.gov/pubmed/35332608
http://dx.doi.org/10.1002/humu.24370

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