Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q2238delFs
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ABCA4

NM_000350.3:p.Q2238delFs

Associated Papers

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L et al.

Scientific Reports, 2020

32218477 (PubMed )
Supplement: 41598_2020_62119_MOESM4_ESM.xlsx › Supplemental_table2

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."