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
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J et al.
Clinical Genetics, 2019
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Field M et al.
American Journal of Human Genetics, 2007
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