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Logo FID Pharmazie PubPharm Discovery System Universitätsbibliothek Braunschweig Institut für Informationssysteme
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3.
Electronic Article

Next-generation sequencing for the diagnosis of MYH9-RD : Predicting pathogenic variants

for Human mutation | Vol. 41, No. 1 (2020), p. 277-290
by Bury, L. | Megy, K. | Stephens, J. | +34
Electronic availability is being checked...
7.
Article

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

for Blood | Vol. 129, No. 4 (2017), p. 520-524
by Sivapalaratnam, S. | Westbury, S. | Stephens, J. | +22
Electronic availability is being checked...
9.
Article

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

for Blood | Vol. 127, No. 23 (2016), p. 2903-2914
by Stritt, S. | Nurden, P. | Turro, E. | +42
Electronic availability is being checked...
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