Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.R229H
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OPTC

NM_014359.4:p.R229H

Associated Papers

Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Matsushima N et al.

Journal of Cell Communication and Signaling, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.

Majava M et al.

Human Mutation, 2007

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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."