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Decoding Complex Inherited Phenotypes in Rare Disorders: the DECIPHERD Initiative for Rare Undiagnosed Diseases in Chile.

M. Cecilia Poli,Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana,Gabriela Moreno, Luz M. Martín,Gonzalo Encina, Daniela Böhme,Víctor Faundes, M. Jesús Zavala,Trinidad Hasbún,Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira,Javiera de la Cruz,Camila Astudillo,Guillermo Lay-Son, Carolina Cares,Mariana Aracena, Esteban San Martin,Zeynep Coban-Akdemir,Jennifer E. Posey,James R. Lupski,Gabriela M. Repetto

European Journal of Human Genetics（2024）

Cited 2|Views41

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