Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.S338L
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ACTG1

NM_001614.5:p.S338L

Associated Papers

A Survey of Predicted Protein-Protein Interactions Involving Disordered Regions in Humans.

Pei J et al.

Journal of Molecular Biology, 2026

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.

Frohne A et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH et al.

Human Genetics, 2022

34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Kim SY et al.

Scientific Reports, 2021

34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.

Lee SY et al.

Scientific Reports, 2020

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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."