Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.K1938E
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ARID1A

NM_006015.6:p.K1938E

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Cousin MA et al.

Genome Medicine, 2022

35698242 (PubMed )
Supplement: 13073_2022_1064_MOESM1_ESM.pdf

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Oliver GR et al.

Plos One, 2019

31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest
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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."