Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.E59*
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ARID1A

NM_006015.6:p.E59*

Associated Papers

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

Tanaka Y et al.

European Journal of Medical Genetics, 2025

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Genetic diseases underlying a spectrum of fetal effusions.

Gulrajani NB et al.

American Journal of Obstetrics and Gynecology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

Slavotinek A et al.

European Journal of Medical Genetics, 2022

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