Associated Papers
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
40519747 (PubMed )
Supplement: mmc1.xlsx › Missense
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
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