KEGG   VARIANT: 1287v1
Entry
1287v1                      Variant                                
Name
COL4A5 mutation
Type
Loss of function
Gene
COL4A5  collagen alpha-5(IV) chain isoform 1 precursor [KO:K06237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 303630
Network
nt06539  Cytoskeleton in muscle cells
nt06548  Integrin signaling
Disease
H00581  Alport syndrome
Reference
PMID:38021591
  Authors
Adone A, Anjankar A
  Title
Alport Syndrome: A Comprehensive Review.
  Journal
Cureus 15:e47129 (2023)
DOI:10.7759/cureus.47129
LinkDB

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