Varaico: Literature-Extracted Genetic Variants

Gene:BST1
Variant:p.E223K
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BST1

NM_004334.3:p.E223K

Associated Papers

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer
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