Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.Y300C
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INPP5K

NM_016532.4:p.Y300C

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

Defective lysosome reformation during autophagy causes skeletal muscle disease.

McGrath MJ et al.

The Journal of Clinical Investigation, 2021

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."