Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E300K
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OPTN

NM_001008212.2:p.E300K

Associated Papers

Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Scelsi HF et al.

Disease Models & Mechanisms, 2023

36579626 (PubMed )
Supplement: dmm-16-049816-s1.pdf

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

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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."