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Neurology. Genetics|December 25, 2019
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M Sliepka, Sarah C McGriff, Linda Z Rossetti, et al.
JBMR Plus|May 28, 2019
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis ImperfectaJaskaran S Bains, Erin M Carter, Kate P Citron, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
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