Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.R16_E18del3
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RP2

NM_006915.3:p.R16_E18del3

Associated Papers

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Sergouniotis PI et al.

Orphanet Journal of Rare Diseases, 2016

27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
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