Výsledky vyhledávání - "Sabrina I. Amaya"

PAK1 c. 1409 T > a (p. Leu470Gln ) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature

Autor: Melina L. Corriveau, Sabrina I. Amaya, Mary Clare Koebel, Vanesa C. Lerma, Sydney L. Michener, Alicia Turner, Rebecca J. Schultz, Elaine S. Seto, Gloria E. Diaz‐Medina, William J. Craigen, John W. Swann, Mingshan Xue, Hsiao‐Tuan Chao

Publikováno v: American Journal of Medical Genetics Part A. 191:1619-1625

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::68ea02b926e5ffa0d7116153d17535a1
https://doi.org/10.1002/ajmg.a.63177

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