Associated Papers
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1.1
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