Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.Q56*
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ARID1A

NM_006015.6:p.Q56*

Associated Papers

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33328602 (PubMed )
Supplement: NIHMS1642406-supplement-Supplementary_Material.pdf

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

Distinct molecular profile of diffuse cerebellar gliomas.

Nomura M et al.

Acta Neuropathologica, 2017

28852847 (PubMed )
Supplement: 401_2017_1771_MOESM2_ESM.xlsx › Table_S6
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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."