Associated Papers
Germline MUTYH mutations and high-grade gliomas: Novel evidence for a potential association.
Bedics G et al.
Genes, Chromosomes & Cancer, 2022
35545820 (PubMed )
Supplement: GCC-61-622-s002.xlsx › Table_S4
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
Philippe J et al.
International Journal of Obesity (2005), 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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