Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R283*
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ABCA4

NM_000350.3:p.R283*

Associated Papers

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Tayebi N et al.

Molecular Vision, 2019

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L et al.

Human Genetics, 2015

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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."