ABCA4 c.535T>G ;(p.Y179D)

Variant ID: 1-94568606-A-C

NM_000350.2(ABCA4):c.535T>G;(p.Y179D)

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: ABCA4: 535T>G
PubMed Link: 33576794
Variant Present in the following documents:
  • Main text
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