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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Karim S et al.
Life (basel, Switzerland), 2021
35054407 (PubMed )
Supplement: life-12-00014-s001.zip › life-1475969-supplementary.pdf
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG et al.
American Journal of Medical Genetics. Part A, 2018
The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
Hull S et al.
The British Journal of Ophthalmology, 2016
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M et al.
Journal of Medical Genetics, 2009
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