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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.
Nat Commun. 2019.
PMID: 31175295
Free PMC article.
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.
Raible SE, et al.
Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.
Am J Med Genet A. 2019.
PMID: 31058441
Free PMC article.
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