Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.H40Y
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ACTB

NM_001101.5:p.H40Y

Associated Papers

Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Chen X et al.

Cancer Communications (london, England), 2022

35920016 (PubMed )
Supplement: CAC2-42-1217-s001.xlsx › Supplementary_Table_S6

A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Wang X et al.

Haematologica, 2022

35142151 (PubMed )
Supplement: 2021_279908_WANG_TABS3.xlsx › V15

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

Myopathy-causing actin mutations promote defects in serum-response factor signalling.

Visegrády B et al.

The Biochemical Journal, 2010

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.

Uno K et al.

Genes, Chromosomes & Cancer, 2002

A method for rapidly screening functionality of actin mutants and tagged actins.

Rommelaere H et al.

Biological Procedures Online, 0

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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."