Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V et al.
Pigment Cell & Melanoma Research, 2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J et al.
Plos One, 2017
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