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- W2333405853 abstract "Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN." @default.
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- W2333405853 date "2015-02-12" @default.
- W2333405853 modified "2023-10-11" @default.
- W2333405853 title "A FRMD7 variant in a Japanese family causes congenital nystagmus" @default.
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- W2333405853 doi "https://doi.org/10.1038/hgv.2015.2" @default.
- W2333405853 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4785577" @default.
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