Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.H254H
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ACTN2

NM_001103.4:p.H254H

Associated Papers

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.

Parigger T et al.

Technology in Cancer Research & Treatment, 0

38766867 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338241252706.xlsx › biopsy_mutations
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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."