Varaico: Literature-Extracted Genetic Variants

Gene:TMEM98
Variant:p.R201P
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TMEM98

NM_015544.3:p.R201P

Associated Papers

Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort.

Xu Q et al.

Journal of Medical Genetics, 2025

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.

Yu X et al.

Investigative Ophthalmology & Visual Science, 2025

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.

Hassall MM et al.

Scientific Reports, 2023

[A family with nanophthalmos caused by a TMEM98 gene variant].

Yu XW et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2022

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.

Koenighofer M et al.

Experimental Eye Research, 2021

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

Prasov L et al.

Scientific Reports, 2020

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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."