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
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
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Yousaf S et al.
Pigment Cell & Melanoma Research, 2016
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