ABCA4 c.4307A>T ;(p.N1436I)

Variant ID: 1-94496029-T-A

NM_000350.2(ABCA4):c.4307A>T;(p.N1436I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 4307A>T; Asn1436Ile
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.

Translational Vision Science & Technology
Melillo, Paolo P; Prinster, Anna A; Di Iorio, Valentina V; Olivo, Gaia G; D'Alterio, Francesco Maria FM; Cocozza, Sirio S; Quarantelli, Mario M; Testa, Francesco F; Brunetti, Arturo A; Simonelli, Francesca F
Publication Date: 2020-05

Variant appearance in text: STGD1: N1436I
PubMed Link: 32821503
Variant Present in the following documents:
  • Main text
  • tvst-9-6-6.pdf
View BVdb publication page



Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology
Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B
Publication Date: 2017

Variant appearance in text: STGD1: Asn1436Ile
PubMed Link: 28912967
Variant Present in the following documents:
  • Main text
  • JOPH2017-3643495.pdf
View BVdb publication page