Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.K219N
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FRMD7

NM_194277.3:p.K219N

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

A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.

Wu S et al.

Journal of Molecular Neuroscience : Mn, 2019

Single gene disorders.

Unknown Author

Genomic Medicine, 2008

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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."