Publications:

Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.

Molecular Vision

Rojanaporn, Duangnate D; Boontawon, Tatpong T; Chareonsirisuthigul, Takol T; Thanapanpanich, Onrampa O; Attaseth, Taweevat T; Saengwimol, Duangporn D; Anurathapan, Usanarat U; Sujirakul, Tharikarn T; Kaewkhaw, Rossukon R; Hongeng, Suradej S

Publication Date: 2018

Variant appearance in text: RB1: Glu466Aspfs*12

PubMed Link: 30636860

Variant Present in the following documents:

• Main text
• mv-v24-778.pdf

View BVdb publication page

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Scientific Reports

Kooi, Irsan E IE; Mol, Berber M BM; Massink, Maarten P G MP; Ameziane, Najim N; Meijers-Heijboer, Hanne H; Dommering, Charlotte J CJ; van Mil, Saskia E SE; de Vries, Yne Y; van der Hout, Annemarie H AH; Kaspers, Gertjan J L GJ; Moll, Annette C AC; Te Riele, Hein H; Cloos, Jacqueline J; Dorsman, Josephine C JC

Publication Date: 2016-04-29

Variant appearance in text: RB1: 1397delA; E466fs

PubMed Link: 27126562

Variant Present in the following documents:

• Main text
• srep25264.pdf
• srep25264-s3.xls, sheet 1

View BVdb publication page