Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE2
Variant:p.Q782*
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ANKLE2

NM_015114.3:p.Q782*

Associated Papers

Molecular functions of ANKLE2 and its implications in human disease.

Fishburn AT et al.

Disease Models & Mechanisms, 2024

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

Thomas AX et al.

Annals of Clinical and Translational Neurology, 2022

Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.

Ecovoiu AA et al.

International Journal of Molecular Sciences, 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

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S et al.

Cell, 2014

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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."