Associated Papers
Regionally enriched rare deleterious exonic variants in the UK and Ireland.
Halachev M et al.
Nature Communications, 2024
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G et al.
European Journal of Medical Genetics, 2023
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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