Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.E33fs
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ARID1A

NM_006015.6:p.E33fs

Associated Papers

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.

Gofin Y et al.

American Journal of Medical Genetics. Part A, 2022

Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.

Boot A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35058360 (PubMed )
Supplement: pnas.2114024119.sd08.xlsx › Dataset.S8

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
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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."