Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.A144T
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ACTG1

NM_001614.5:p.A144T

Associated Papers

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

Pei J et al.

Journal of Molecular Biology, 2026

[Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene].

Qiu S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

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
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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."