Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S368P
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ABCA4

NM_000350.3:p.S368P

Associated Papers

Screening copy number variations in 35 unsolved inherited retinal disease families.

Liu X et al.

Human Genetics, 2024

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

Tayebi N et al.

Molecular Vision, 2019

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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."