USH2A c.9433_9437del ;(p.L3145Mfs*9)

Variant ID: 1-215990471-TAGGAG-T

NM_206933.2(USH2A):c.9433_9437del;(p.L3145Mfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science
Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L
Publication Date: 2021-02-01

Variant appearance in text: USH2A: 9433_9437del
PubMed Link: 33576794
Variant Present in the following documents:
  • Main text
  • iovs-62-2-13.pdf
View BVdb publication page