Associated Papers
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
Phenotypic heterogeneity of POMT2 gene variants.
Finsterer J
American Journal of Medical Genetics. Part A, 2018
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Abdullah S et al.
American Journal of Medical Genetics. Part A, 2017
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC et al.
American Journal of Human Genetics, 2012
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