Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
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_MOESM6_ESM.xlsx › S5C
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
Yoneda Y et al.
American Journal of Human Genetics, 2012
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