Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.P259L
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HPS1

NM_000195.5:p.P259L

Associated Papers

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

NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.

Li L et al.

Journal of Ovarian Research, 2020

32312275 (PubMed )
Supplement: 13048_2020_645_MOESM4_ESM.xlsx › Supp_Table_1
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