A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

समान संसाधन

• Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.
  द्वारा: Bremner, R, और अन्य
  प्रकाशित: (1997)
• Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
  द्वारा: Imbert‐Bouteille, Marion, और अन्य
  प्रकाशित: (2019)
• The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
  द्वारा: Lohmann, D. R., और अन्य
  प्रकाशित: (1996)
• A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1
  द्वारा: Eloy, Philippine, और अन्य
  प्रकाशित: (2016)
• Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
  द्वारा: Onadim, Z, और अन्य
  प्रकाशित: (1992)