Associated Papers
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
Mohammadi MF et al.
Irish Journal of Medical Science, 2024
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4
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_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Lumaka A et al.
American Journal of Medical Genetics. Part A, 2018
The molecular basis of aminoacylase 1 deficiency.
Sommer A et al.
Biochimica Et Biophysica Acta, 2011
Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
Savas S et al.
Human Genomics, 2006
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