ABCA4 c.2593dup ;(p.Y865Lfs*20)

Variant ID: 1-94517248-T-TA

NM_000350.2(ABCA4):c.2593dup;(p.Y865Lfs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Journal Of Ophthalmology
Arai, Yuuki Y; Maeda, Akiko A; Hirami, Yasuhiko Y; Ishigami, Chie C; Kosugi, Shinji S; Mandai, Michiko M; Kurimoto, Yasuo Y; Takahashi, Masayo M
Publication Date: 2015

Variant appearance in text: ABCA4: 2593_2594insT
PubMed Link: 26161267
Variant Present in the following documents:
  • Main text
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