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Paper Details

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
Mol Genet Genomic Med
3
2021
Author NameAffiliation
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanDivision of Neurology Rady Children's Hospital
Jennifer FriedmanRady Children's Institute for Genomic Medicine
Richard HaasUniversity of California San Diego
Richard HaasUniversity of California San Diego
Richard HaasDivision of Neurology Rady Children's Hospital
David DimmockRady Children's Institute for Genomic Medicine
Laura J NiedernhoferInstitute on the Biology of Aging and Metabolism, University of Minnesota
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Release 1.2