Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics, 1997
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Bunge S et al.
Human Mutation, 1997
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