Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S1261R
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ABCA4

NM_000350.3:p.S1261R

Associated Papers

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Iancu IF et al.

International Journal of Molecular Sciences, 2022

35955564 (PubMed )
Supplement: ijms-23-08431-s001.zip › ijms-1808225-supplementary.pdf

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Iancu IF et al.

Npj Genomic Medicine, 2021

33623043 (PubMed )
Supplement: 41525_2021_182_MOESM1_ESM.pdf
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