Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.V249M
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WIPI2

NM_015610.4:p.V249M

Associated Papers

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

WIPI proteins: Biological functions and related syndromes.

Almannai M et al.

Frontiers in Molecular Neuroscience, 2022

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

The WIPI Gene Family and Neurodegenerative Diseases: Insights From Yeast and Dictyostelium Models.

Vincent O et al.

Frontiers in Cell and Developmental Biology, 2021

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

Maroofian R et al.

Brain Communications, 2021

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.

Jelani M et al.

Brain : a Journal of Neurology, 2019

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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."