Varaico: Literature-Extracted Genetic Variants

Gene:MYRF
Variant:p.R478P
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MYRF

NM_001127392.3:p.R478P

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

Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.

Gupta N et al.

American Journal of Medical Genetics. Part A, 2022

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.

Wang H et al.

Frontiers in Pediatrics, 2022

Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.

Yu X et al.

Molecular Vision, 2021

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."