Associated Papers
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
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.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
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