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
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A et al.
Acta Neuropathologica, 2022
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.
Ohkawara B et al.
International Journal of Molecular Sciences, 2021
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Ohkawara B et al.
Jci Insight, 2020
Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
Wang A et al.
Frontiers in Neurology, 2020
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J et al.
Orphanet Journal of Rare Diseases, 2017
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