Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
Neubauer J et al.
International Journal of Legal Medicine, 2021
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.
Neubauer J et al.
International Journal of Legal Medicine, 2018
Select a paper to view details