Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R216Q
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RLBP1

NM_000326.5:p.R216Q

Associated Papers

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf

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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