Varaico: Literature-Extracted Genetic Variants

Gene:FRMD7
Variant:p.V272L
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FRMD7

NM_194277.3:p.V272L

Associated Papers

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

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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."