Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.P491_P496insFs
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HPS1

NM_000195.5:p.P491_P496insFs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Acute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.

Vázquez-Folch SJ et al.

Cureus, 2024

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."