Varaico: Literature-Extracted Genetic Variants

Gene:PRUNE1
Variant:p.P17insFs
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PRUNE1

NM_021222.3:p.P17insFs

Associated Papers

Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.

Bibbò F et al.

Frontiers in Oncology, 2021

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Hartley JN et al.

American Journal of Medical Genetics. Part A, 2019

PRUNE1-related disorder: Expanding the clinical spectrum.

Imagawa E et al.

Clinical Genetics, 2018

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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."