Varaico: Literature-Extracted Genetic Variants

Gene:LCA5
Variant:p.M1insFs
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LCA5

NM_001122769.3:p.M1insFs

Associated Papers

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Gerber S et al.

European Journal of Human Genetics : Ejhg, 2001

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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."