RB1 c.142_170del ;(p.E48Yfs*52)

Variant ID: 13-48881417-CTTGAGTTTGAAGAAACAGAAGAACCTGAT-C

NM_000321.2(RB1):c.142_170del;(p.E48Yfs*52)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 142_170del; E48YfsX52
PubMed Link: 24791139
Variant Present in the following documents:
  • Main text
  • mv-v20-545.pdf
View BVdb publication page