Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE2
Variant:p.S647N
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ANKLE2

NM_015114.3:p.S647N

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

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

Cunha MLR et al.

Plos One, 2017

29117201 (PubMed )
Supplement: pone.0187699.s002.xlsx › SNPs_result_filter_strategies

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."