Varaico: Literature-Extracted Genetic Variants

Gene:ACTN1
Variant:p.V228L
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ACTN1

NM_001130004.2:p.V228L

Associated Papers

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation

ACTN1 variants associated with thrombocytopenia.

Westbury SK et al.

Platelets, 2017

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