Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.G146V
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ACTB

NM_001101.5:p.G146V

Associated Papers

Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.

Greve JN et al.

The Febs Journal, 2025

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › SJCRH

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Atzmony L et al.

Journal of Cutaneous Pathology, 2020

Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.

Murphy AJ et al.

Nature Communications, 2019

31862972 (PubMed )
Supplement: 41467_2019_13646_MOESM6_ESM.xlsx › WES_SNV

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.

Gadd S et al.

Nature Genetics, 2017

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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."