Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.N419Splc
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MFRP

NM_031433.4:p.N419Splc

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

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Sao Su S et al.

Ophthalmic Genetics, 2025

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects.

Li Y et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014

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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."