RB1 c.374_380del ;(p.E125Vfs*9)

Variant ID: 13-48916841-TAGAAATC-T

NM_000321.2(RB1):c.374_380del;(p.E125Vfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation.

Cancers
Kanber, Deniz D; Woestefeld, Julia J; Döpper, Hannah H; Bozet, Morgane M; Brenzel, Alexandra A; Altmüller, Janine J; Kilpert, Fabian F; Lohmann, Dietmar D; Pommerenke, Claudia C; Steenpass, Laura L
Publication Date: 2022-04-26

Variant appearance in text: RB1: 374_380del; Glu125Valfs*9
PubMed Link: 35565295
Variant Present in the following documents:
  • Main text
  • cancers-14-02166.pdf
View BVdb publication page