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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FZD4

Variant:p.E40del1

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FZD4

NM_012193.4:p.E40del1

hg38:chr11:86954963 TTCC>T

Associated Papers

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

Lähteenoja L et al.

Acta Ophthalmologica, 2025

38706142 (PubMed )

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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."