Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome

Dogan, Mustafa ; Teralı, Kerem ; Eroz, Recep ; Kılıç, Hüseyin ; Gezdirici, Alper ; Gönüllü, Burçin

Molecular biology reports, 2024-12, Vol.51 (1), p.580-580 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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