Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y2063_A2064insA
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ABCA4

NM_000350.3:p.Y2063_A2064insA

Associated Papers

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Hu FY et al.

Bmc Medical Genetics, 2020

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Hu FY et al.

Frontiers in Genetics, 2019

31543898 (PubMed )
Supplement: Table_2.xls › Sheet1
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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."