Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.A476T
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ACTN2

NM_001103.4:p.A476T

Associated Papers

Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.

Garcia CAB et al.

Genes, 2025

40282380 (PubMed )
Supplement: genes-16-00421-s001.zip › Table_S3_Validated_Mosaic_Variants_in_all_patients.xlsx › Sheet1

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.

Pérez-Serra A et al.

International Journal of Molecular Sciences, 2024

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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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."