Associated Papers
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
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
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