Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.H160fs
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FRMD7

NM_194277.3:p.H160fs

Associated Papers

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

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

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

He X et al.

Genetic Testing, 2008

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

He X et al.

Molecular Vision, 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."