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Last Updated: 03/06/2025
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Found 1653 publications
A Recessive oca2 Mutation Underlies Albinism in Xiphophorus fish.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Journal: American journal of respiratory and critical care medicine
Published: January 22, 2025
Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Journal: Ear, nose, & throat journal
Published: December 06, 2024
Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.
Journal: Protein science : a publication of the Protein Society
Published: September 16, 2024
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Journal: International journal of molecular sciences
Published: September 09, 2024
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Journal: Pigment cell & melanoma research
Published: September 09, 2024
Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.
Journal: FEBS letters
Published: September 05, 2024
Acute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.
Journal: Cureus
Published: September 05, 2024
Last Updated: 03/06/2025