Varaico: Literature-Extracted Genetic Variants

Gene:TMEM98
Variant:p.I135T
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TMEM98

NM_015544.3:p.I135T

Associated Papers

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

Hassall MM et al.

Scientific Reports, 2023

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.

Cross SH et al.

Plos Genetics, 2020

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Cross SH et al.

Investigative Ophthalmology & Visual Science, 2019

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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."