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Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
Mattos EP, Silva AA, Magalhães JA, Leite JC, Leistner-Segal S, Gus-Kessler R, Perez JA, Vedolin LM, Torreblanca-Zanca A, Lapunzina P, Ruiz-Perez VL, Sanseverino MT. Mattos EP, et al. Among authors: magalhaes ja. Am J Med Genet A. 2015 Jun;167(6):1323-9. doi: 10.1002/ajmg.a.36930. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25913727
47 results