Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

SIMPLE SUMMARY: Heritable retinoblastoma is a genetic disease that predisposes to develop multiple retinoblastomas in childhood and other extraocular tumors later in life. It is caused by genetic variants in the RB1 gene. Here we present a new classification for genetic variants in the RB1 gene (REC...

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Detalles Bibliográficos
Autores principales: Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8037437/
https://www.ncbi.nlm.nih.gov/pubmed/33807189
http://dx.doi.org/10.3390/cancers13071605

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8037437/
https://www.ncbi.nlm.nih.gov/pubmed/33807189
http://dx.doi.org/10.3390/cancers13071605

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