Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.P311L
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HPS6

NM_024747.6:p.P311L

Associated Papers

Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.

Xi B et al.

Frontiers in Genetics, 2023

38111681 (PubMed )
Supplement: Table1.pdf

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Select a paper to view details
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