Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE2
Variant:p.A109P
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ANKLE2

NM_015114.3:p.A109P

Associated Papers

Molecular functions of ANKLE2 and its implications in human disease.

Fishburn AT et al.

Disease Models & Mechanisms, 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

Thomas AX et al.

Annals of Clinical and Translational Neurology, 2022

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Link N et al.

Developmental Cell, 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."