Varaico: Literature-Extracted Genetic Variants

Gene:PIKFYVE
Variant:p.R417H
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PIKFYVE

NM_015040.4:p.R417H

Associated Papers

Genetic variants in PIKFYVE: A review of ocular phenotypes.

Misaghi E et al.

Experimental Eye Research, 2025

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
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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."