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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page