Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.H1586R
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CEP290

NM_025114.4:p.H1586R

Associated Papers

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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