F2 c.1666del ;(p.D556Mfs*19)

Variant ID: 11-46760609-TG-T

NM_000506.3(F2):c.1666del;(p.D556Mfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Sodi, Andrea A; Signorini, Sabrina S; Di Iorio, Valentina V; Murro, Vittoria V; Brunetti-Pierri, Raffaella R; Valente, Enza Maria EM; Karali, Marianthi M; Melillo, Paolo P; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2021-07-01

Variant appearance in text: F2: 1666del
PubMed Link: 34196655
Variant Present in the following documents:
  • Main text
View BVdb publication page