Varaico: Literature-Extracted Genetic Variants

Gene:PIKFYVE
Variant:p.L1090L
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PIKFYVE

NM_015040.4:p.L1090L

Associated Papers

Genetic variants in PIKFYVE: A review of ocular phenotypes.

Misaghi E et al.

Experimental Eye Research, 2025

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."