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
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto S et al.
Cell, 2014
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