Associated Papers
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
29895856 (PubMed )
Supplement: 41436_2018_11_MOESM1_ESM.docx
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
Vallet M et al.
Human Molecular Genetics, 2015
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