Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R335H
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ACTG1

NM_001614.5:p.R335H

Associated Papers

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Dawidziuk M et al.

International Journal of Molecular Sciences, 2022

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Sorrentino U et al.

Audiology Research, 2021

34698053 (PubMed )
Supplement: audiolres-11-00052-s001.zip › audiolres-1399936-supplementary.pdf

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Mithraprabhu S et al.

Cancers, 2019

31261969 (PubMed )
Supplement: cancers-11-00917-s001.xlsx › TAS_results_n_36__31_RR__5_ND_

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.

Lee CG et al.

Molecular Medicine Reports, 2018

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N et al.

American Journal of Medical Genetics. Part A, 2016

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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."