Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.M258V
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FRMD7

NM_194277.3:p.M258V

Associated Papers

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.

Liu S et al.

Investigative Ophthalmology & Visual Science, 2026

41532703 (PubMed )
Supplement: iovs-67-1-30_s006.xlsx › S1

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.

Choi JH et al.

Investigative Ophthalmology & Visual Science, 2018

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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."