Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Background: Evaluation of the pathogenicity of a gene variant of unknown significance (VUS) is crucial for molecular diagnosis and genetic counseling, but can be challenging. This is especially so in phenotypically variable diseases, such as von Hippel-Lindau disease (vHL). vHL is caused by germline...

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Detalles Bibliográficos
Autores principales: Alosi, Daniela, Bisgaard, Marie Luise, Hemmingsen, Sophie Nowak, Krogh, Lotte Nylandsted, Mikkelsen, Hanne Birte, Binderup, Marie Louise Mølgaard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321774/
https://www.ncbi.nlm.nih.gov/pubmed/28503092
http://dx.doi.org/10.2174/1389202917666160805153221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321774/
https://www.ncbi.nlm.nih.gov/pubmed/28503092
http://dx.doi.org/10.2174/1389202917666160805153221

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