Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE2
Variant:p.R314W
Back to variants list

ANKLE2

NM_015114.3:p.R314W

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."