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1Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity
Margaux Serey-Gaut,Marcello Scala,Bruno Reversade,Lyse Ruaud,Christelle Cabrol,Francesco Musacchia,Annalaura Torella,Andrea Accogli,Nathalie Escande-Beillard,Jean Langlais,Gianluca Piatelli,Alessandro Consales,Vincenzo Nigro,Valeria Capra,Lionel Van Maldergem
American Journal of Medical Genetics Part A.2020;182(6)1466
[DOI]
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