Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.P166fs
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MFRP

NM_031433.4:p.P166fs

Associated Papers

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M et al.

The British Journal of Ophthalmology, 2013

Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.

Neri A et al.

Molecular Vision, 2012

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.

Crespí J et al.

American Journal of Ophthalmology, 2008

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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."