Varaico: Literature-Extracted Genetic Variants

Gene:PIKFYVE
Variant:p.E820Splc
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PIKFYVE

NM_015040.4:p.E820Splc

Associated Papers

Genetic variants in PIKFYVE: A review of ocular phenotypes.

Misaghi E et al.

Experimental Eye Research, 2025

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Kawasaki S et al.

Molecular Vision, 2012

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Li S et al.

American Journal of Human Genetics, 2005

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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."