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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIKFYVE

Variant:p.L350_D351Splc

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PIKFYVE

NM_015040.4:p.L350_D351Splc

hg38:chr2:208300933 G>T

Associated Papers

Disruption of PIKFYVE causes congenital cataract in human and zebrafish.

Mei S et al.

Elife, 2022

35023829 (PubMed )

Supplement: elife-71256-fig2-figsupp2-data1.xlsx › Sheet1

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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."