KEGG   VARIANT: 715v1
Entry
715v1                      Variant                                 
Name
C1R mutation
Gene
C1R  complement C1r [KO:K01330]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613785
Network
nt06513  Complement cascade
Disease
H02240  Ehlers-Danlos syndrome periodontal type
Reference
PMID:17162365
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
PMID:32732924
  Authors
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH
  Title
The Ehlers-Danlos syndromes.
  Journal
Nat Rev Dis Primers 6:64 (2020)
DOI:10.1038/s41572-020-0194-9
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