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The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB.
Ferrari, Silvia; Regazzo, Daniela; Cerbo, Anna; Cortella, Irene; Bertomoro, Antonella; Simioni, Paolo.
Affiliation
  • Ferrari S; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
  • Regazzo D; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
  • Cerbo A; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
  • Cortella I; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
  • Bertomoro A; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
  • Simioni P; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Br J Haematol ; 2024 Jun 25.
Article in En | MEDLINE | ID: mdl-38923496
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Br J Haematol Year: 2024 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Br J Haematol Year: 2024 Type: Article Affiliation country: Italy