Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

Autor: Muntadas, Javier A1 (AUTHOR), Hyland, Martin R1 (AUTHOR), Martínez, Maria Del Rosario Ortolá1 (AUTHOR), Young, Jaime N2 (AUTHOR), Chong, Jessica X3,4 (AUTHOR), Bamshad, Michael J3,4,5 (AUTHOR), Maselli, Ricardo A.2 (AUTHOR) ramaselli@ucdavis.edu
Zdroj: BMC Medical Genomics. 8/12/2024, Vol. 17 Issue 1, p1-6. 6p.
Databáze: Academic Search Ultimate
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