Associated Papers
TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.
Klonowska K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Grant AD et al.
Scientific Reports, 2019
31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1
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