ABCA4 c.2249T>C ;(p.L750P)

Variant ID: 1-94522290-A-G

NM_000350.2(ABCA4):c.2249T>C;(p.L750P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.

Ophthalmic Genetics
Abalem, Maria Fernanda MF; Qian, Cynthia X CX; Branham, Kari K; Schlegel, Dana D; Fahim, Abigail T AT; Khan, Naheed W NW; Heckenlively, John R JR; Jayasundera, K Thiran KT
Publication Date: 2018

Variant appearance in text: ABCA4: 2249T>C
PubMed Link: 28726568
Variant Present in the following documents:
  • Main text
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