Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A185S
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RP1L1

NM_178857.6:p.A185S

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E et al.

Clinical Genetics, 2018

30215852 (PubMed )
Supplement: CGE-94-569-s001.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."