Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.T49T
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OPTN

NM_001008212.2:p.T49T

Associated Papers

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Park J et al.

Molecular Medicine Reports, 2016

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.

Naruse H et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012

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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."