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Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in..:

Varela, Viviana ; Rivolta, Carina Marcela ; Esperante, Sebastian...
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/clinchem/article/52/2/182/5626804.  ,