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The compound pathogenic effects of a homozygous frameshift ..:
Ferrari, Silvia
;
Regazzo, Daniela
;
Cerbo, Anna
...
British Journal of Haematology. 205 (2024) 2 - p. 742-745 , 2024
Link:
https://doi.org/10.1111/bjh.19593
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_bjh.19593&Exemplar=1&LAN=DE A1 Ferrari, Silvia A1 Regazzo, Daniela A1 Cerbo, Anna A1 Cortella, Irene A1 Bertomoro, Antonella A1 Simioni, Paolo PB Wiley YR 2024 SN 0007-1048 SN 1365-2141 JF British Journal of Haematology VO 205 IS 2 SP 742 OP 745 LK http://dx.doi.org/https://doi.org/10.1111/bjh.19593 DO https://doi.org/10.1111/bjh.19593 SF ELIB - SuUB Bremen
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