Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.N54_V55Splc
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FRMD7

NM_194277.3:p.N54_V55Splc

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 homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Radhakrishna U et al.

European Journal of Human Genetics : Ejhg, 2012

The Role of FRMD7 in Idiopathic Infantile Nystagmus.

Watkins RJ et al.

Journal of Ophthalmology, 2012

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Tarpey P et al.

Nature Genetics, 2006

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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."