Associated Papers
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.
Chin JJ et al.
Human Genetics, 2025
41020988 (PubMed )
Supplement: 439_2025_2782_MOESM1_ESM.xlsx › MORL-3
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
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