Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.P381_P382insFs
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MFRP

NM_031433.4:p.P381_P382insFs

Associated Papers

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

Amaral RAS et al.

Ophthalmic Genetics, 2024

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Richardson R et al.

European Journal of Human Genetics : Ejhg, 2017

Genetic analysis of axial length genes in high grade myopia from Indian population.

Sharmila F et al.

Meta Gene, 2014

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

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

Evaluation of MFRP as a candidate gene for high hyperopia.

Wang P et al.

Molecular Vision, 2009

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.

Sundin OH et al.

Ophthalmic Genetics, 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."