Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.V541_C542delFs
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MFRP

NM_031433.4:p.V541_C542delFs

Associated Papers

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

Godinho G et al.

Ophthalmic Genetics, 2020

Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.

Matsushita I et al.

Japanese Journal of Ophthalmology, 2012

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

Mukhopadhyay R et al.

Molecular Vision, 2010

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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."