ABCA4 c.1783G>A ;(p.A595T)

Variant ID: 1-94528287-C-T

NM_000350.2(ABCA4):c.1783G>A;(p.A595T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials.

Ophthalmic Genetics
Dedania, Vaidehi S VS; Liu, Jerry Y JY; Schlegel, Dana D; Andrews, Chris A CA; Branham, Kari K; Khan, Naheed W NW; Musch, David C DC; Heckenlively, John R JR; Jayasundera, K Thiran KT
Publication Date: 2018

Variant appearance in text: ABCA4: Ala595Thr
PubMed Link: 28704108
Variant Present in the following documents:
  • Main text
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