Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.L54V
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OPTN

NM_001008212.2:p.L54V

Associated Papers

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Yu JW et al.

Jci Insight, 2025

39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.

Huang C et al.

Scientific Reports, 2018

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Huang X et al.

Investigative Ophthalmology & Visual Science, 2014

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."