Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.S679*
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HPS5

NM_181507.2:p.S679*

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

Curated incidence of lysosomal storage diseases from the Taiwan Biobank.

Tsai MM et al.

Npj Genomic Medicine, 2023

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-S5ZHWR
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