Associated Papers
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
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
Shaheen R et al.
Genome Biology, 2015
26416026 (PubMed )
Supplement: 13059_2015_779_MOESM1_ESM.xlsx › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population.
Guérardel A et al.
Bmc Genetics, 2005
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