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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FRMD7

Variant:p.L130I

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FRMD7

NM_194277.3:p.L130I

hg38:chrX:132086029 G>T

Associated Papers

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

Jiang Y et al.

Molecular Vision, 2021

33633439 (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."