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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIMS1

Variant:p.R1161G

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RIMS1

NM_014989.7:p.R1161G

hg38:chr6:72274431 A>G

Associated Papers

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.

Li T et al.

Molecular Medicine Reports, 2017

28677725 (PubMed )

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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."