Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.R261*
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FRMD7

NM_194277.3:p.R261*

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

Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants.

Huang L et al.

Indian Journal of Ophthalmology, 2024

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf

Correlations of FRMD7 gene mutations with ocular oscillations.

Huang L et al.

Scientific Reports, 2022

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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."