Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.D19_Q20Splc
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FRMD7

NM_194277.3:p.D19_Q20Splc

Associated Papers

X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.

Liu F et al.

Frontiers in Ophthalmology, 2022

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.

Wang XF et al.

Frontiers in Cell and Developmental Biology, 2021

33732697 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Abnormal retinal development associated with FRMD7 mutations.

Thomas MG et al.

Human Molecular Genetics, 2014

24688117 (PubMed )
Supplement: supp_ddu122_ddu122supp_table2.pdf

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Song FW et al.

Journal of Zhejiang University. Science. B, 2013

The Role of FRMD7 in Idiopathic Infantile Nystagmus.

Watkins RJ et al.

Journal of Ophthalmology, 2012

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

Thomas MG et al.

Brain : a Journal of Neurology, 2011

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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."