Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.R230H
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HPS1

NM_000195.5:p.R230H

Associated Papers

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2021

34415986 (PubMed )
Supplement: iovs-62-10-23_s007.xlsx › Sheet1
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