Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R335C
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ACTB

NM_001101.5:p.R335C

Associated Papers

Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product.

Willoughby D et al.

Scientific Reports, 2025

40082566 (PubMed )
Supplement: 41598_2025_90136_MOESM2_ESM.xlsx › Clonal-variants-table

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S et al.

Journal of Clinical Medicine, 2024

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.

Chi CS et al.

Human Genetics, 2023

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Zhang L et al.

Clinical and Translational Science, 2020

Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.

Pu J et al.

Molecular Vision, 2011

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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."