Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.Q350_V351Splc
Back to variants list

FRMD7

NM_194277.3:p.Q350_V351Splc

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 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."