Associated Papers
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Peng G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30209273 (PubMed )
Supplement: 41436_2018_272_MOESM7_ESM.xlsx › Supplementary_Table_1
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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