Varaico: Literature-Extracted Genetic Variants

Gene:AGRN
Variant:p.V1667M
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AGRN

NM_198576.4:p.V1667M

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.

Huang K et al.

Journal of Cellular and Molecular Medicine, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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