Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Colombo, Elisa A; Bazan, J Fernando; Negri, Gloria; Gervasini, Cristina; Elcioglu, Nursel H; Yucelten, Deniz; Altunay, Ilknur; Cetincelik, Umram; Teti, Anna; Fattore, Andrea Del; Luciani, Matteo; Sullivan, Spencer K; Yan, Albert C; Volpi, Ludovica; Larizza, Lidia

doi:10.1186/1750-1172-7-7

Orphanet Journal of Rare Diseases

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Last updated: Sat, 27 Apr 2024 1:32:07 Z

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

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ISSN: 1750-1172

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