Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.M258T
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FRMD7

NM_194277.3:p.M258T

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

Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.

Zhao X et al.

Genomics, 2025

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

Correlations of FRMD7 gene mutations with ocular oscillations.

Huang L et al.

Scientific Reports, 2022

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

26741492 (PubMed )
Supplement: pgen.1005679.s001.docx
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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."