Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
Exploring pathogenesis, prevalence, and genetic associations in Chiari malformation type 1: a contemporary perspective.
Mohd Rosdi SN et al.
Asian Biomedicine : Research, Reviews and News, 2024
The COL6A5-p.Glu2272* mutation induces chronic itch in mice.
Rasheed AAB et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2024
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
Urbizu A et al.
Plos One, 2021
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32741963 (PubMed )
Supplement: NIHMS1619687-supplement-Supplementary_Table_2.xlsx › Hoja1
COL6A5 variants in familial neuropathic chronic itch.
Martinelli-Boneschi F et al.
Brain : a Journal of Neurology, 2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE et al.
Genome Biology, 2017
28137300 (PubMed )
Supplement: 13059_2017_1147_MOESM1_ESM.xlsx › Add.Table2
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