Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.H384P
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MFRP

NM_031433.4:p.H384P

Associated Papers

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

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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."