Publications:

Characterization of the Portuguese population diagnosed with retinoblastoma.

Scientific Reports

Castela, Guilherme G; Providência, Joana J; Monteiro, Madalena M; Silva, Sonia S; Brito, Manuel M; Sá, Joaquim J; Oliveiros, Barbara B; Murta, Joaquim Neto JN; Correa, Zelia Z; Branco, Miguel Castelo MC

Publication Date: 2022-03-14

Variant appearance in text: RB1: 1947del; Tyr651Ilefs*7

PubMed Link: 35288594

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8326.pdf

View BVdb publication page

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

Molecular Vision

He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J

Publication Date: 2014

Variant appearance in text: RB1: 1947delG

PubMed Link: 24791139

Variant Present in the following documents:

• Main text
• mv-v20-545.pdf

View BVdb publication page