Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.Q16*
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RLBP1

NM_000326.5:p.Q16*

Associated Papers

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.

Bocquet B et al.

Ophthalmology Science, 2021

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