Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.N167T
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MFRP

NM_031433.4:p.N167T

Associated Papers

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

Prasov L et al.

Scientific Reports, 2020

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

Wasmann RA et al.

Acta Ophthalmologica, 2014

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Mukhopadhyay R et al.

Molecular Vision, 2010

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

Zenteno JC et al.

Molecular Vision, 2009

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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."