Varaico: Literature-Extracted Genetic Variants

Gene:FZD4
Variant:p.M1R
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FZD4

NM_012193.4:p.M1R

Associated Papers

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K et al.

Human Mutation, 2010

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C et al.

American Journal of Human Genetics, 2004

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Toomes C et al.

Molecular Vision, 2004

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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."