Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.G316insFs
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INPP5K

NM_016532.4:p.G316insFs

Associated Papers

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Aslan ES et al.

Life (basel, Switzerland), 2025

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.

Hathazi D et al.

Brain : a Journal of Neurology, 2021

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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."