Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.V471M
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MFRP

NM_031433.4:p.V471M

Associated Papers

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.

Yu X et al.

Investigative Ophthalmology & Visual Science, 2025

40459495 (PubMed )
Supplement: iovs-66-6-9_s002.pdf

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.

Li Z et al.

Frontiers in Genetics, 2024

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.

Guo C et al.

Investigative Ophthalmology & Visual Science, 2019

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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."