Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R4
Variant:p.R998Q
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PIK3R4

NM_014602.3:p.R998Q

Associated Papers

Golgi Dysfunctions in Ciliopathies.

Masson J et al.

Cells, 2022

Pathophysiology of Primary Cilia: Signaling and Proteostasis Regulation.

Senatore E et al.

Frontiers in Cell and Developmental Biology, 2022

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

Stoetzel C et al.

Nature Communications, 2016

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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."