Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A222T
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ACTC1

NM_005159.5:p.A222T

Associated Papers

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.

Moady TA et al.

American Journal of Medical Genetics. Part A, 2026

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

Acuña-Ochoa JG et al.

Case Reports in Genetics, 2024

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT et al.

Genome Medicine, 2023

37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001

Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Lazar IM et al.

Scientific Reports, 2019

31316139 (PubMed )
Supplement: 41598_2019_46897_MOESM3_ESM.xlsx › Table_S1

Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Zhu Y et al.

Nature Communications, 2018

29500430 (PubMed )
Supplement: 41467_2018_3311_MOESM5_ESM.xlsx › SAAVs_and_orthogonal_evidence
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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."