Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.Q91Splc
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MFRP

NM_031433.4:p.Q91Splc

Associated Papers

Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.

Simsek M et al.

Ophthalmic Genetics, 2025

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

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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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."