Associated Papers
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
de Koning MA et al.
European Journal of Human Genetics : Ejhg, 2025
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD et al.
American Journal of Human Genetics, 2017
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I et al.
American Journal of Human Genetics, 2015
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