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Task Force for Neonatal Genomics
Task Force for Neonatal Genomics
Genetics
Biology
Genomics
Missense mutation
Comparative genomics
2
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Erratum: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (The American Journal of Human Genetics (2018) 103(5) (666–678), (S0002929718303173), (10.1016/j.ajhg.2018.09.006))
2019
American Journal of Human Genetics
Task Force for Neonatal Genomics
Deciphering Developmental Disorders Study
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Citations (6)
Identification of cis -suppression of human disease mutations by comparative genomics
2015
Nature
Daniel M. Jordan
Stephan Frangakis
Christelle Golzio
Christopher A. Cassa
Joanne Kurtzberg
Task Force for Neonatal Genomics
Erica E. Davis
Shamil R. Sunyaev
Nicholas Katsanis
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Citations (90)
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