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
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
29300326 (PubMed )
Supplement: ijms-19-00141-s001.pdf
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Cross JL et al.
Clinical Genetics, 2015
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