Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.G146D
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ACTB

NM_001101.5:p.G146D

Associated Papers

Disruption of actin dynamics induces autophagy of the eukaryotic chaperonin TRiC/CCT.

Date Y et al.

Cell Death Discovery, 2022

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Atzmony L et al.

Journal of Cutaneous Pathology, 2020

alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.

Vandamme D et al.

Biochimica Et Biophysica Acta, 2009

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB et al.

Annals of Neurology, 2004

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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."