Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.R258H
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ACTC1

NM_005159.5:p.R258H

Associated Papers

Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.

Glyakina AV et al.

Biophysical Reviews, 2022

Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading Tumors.

Hesson LB et al.

Molecular Cancer Research : Mcr, 2016

27671336 (PubMed )
Supplement: 15417786mcr160175-sup-165857_1_supp_3615939_cbj153.xlsx › WES_85_SNV
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