Associated Papers
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F et al.
Biochemistry and Biophysics Reports, 2026
41399760 (PubMed )
Supplement: mmc1.xlsx › gnomAD_v4.1.0
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Veeramah KR et al.
American Journal of Human Genetics, 2012
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