Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.R539H
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MFRP

NM_031433.4:p.R539H

Associated Papers

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.

Tao J et al.

Clinical & Experimental Ophthalmology, 2025

Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients.

Tao J et al.

Gene, 2024

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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."