Varaico: Literature-Extracted Genetic Variants

Gene:INPP5F
Variant:p.S258N
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INPP5F

NM_014937.4:p.S258N

Associated Papers

Dysfunction of synaptic endocytic trafficking in Parkinson's disease.

Ng XY et al.

Neural Regeneration Research, 2024

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE et al.

Human Mutation, 2013

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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."