Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.I363T
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INPP5K

NM_016532.4:p.I363T

Associated Papers

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

The inositol 5-phosphatase INPP5K participates in the fine control of ER organization.

Dong R et al.

The Journal of Cell Biology, 2018

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M et al.

American Journal of Human Genetics, 2017

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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."