Associated Papers
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
Mendes MI et al.
Human Mutation, 2014
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI et al.
Journal of Inherited Metabolic Disease, 2014
Select a paper to view details