ABCA4 c.807T>C ;(p.N269=)

Variant ID: 1-94548959-A-G

NM_000350.2(ABCA4):c.807T>C;(p.N269=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Investigative Ophthalmology & Visual Science
Di Iorio, Valentina V; Karali, Marianthi M; Melillo, Paolo P; Testa, Francesco F; Brunetti-Pierri, Raffaella R; Musacchia, Francesco F; Condroyer, Christel C; Neidhardt, John J; Audo, Isabelle I; Zeitz, Christina C; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2020-12-01

Variant appearance in text: ABCA4: 807T>C
PubMed Link: 33372982
Variant Present in the following documents:
  • Main text
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