Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E92V
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OPTN

NM_001008212.2:p.E92V

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Exome-based mutation screening in South African children with primary congenital glaucoma.

Carstens N et al.

Eye (london, England), 2023

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Chi ZL et al.

Human Molecular Genetics, 2010

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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."