Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.L7delFs
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HPS6

NM_024747.6:p.L7delFs

Associated Papers

Hermansky-Pudlak Syndrome: Spectrum in Oman.

Nazir HF et al.

Journal of Pediatric Hematology/oncology, 2023

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Al-Tamemi S et al.

Journal of Clinical Immunology, 2023

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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