KEGG   VARIANT: 5339v1
Entry
5339v1                      Variant                                
Name
PLEC mutation
Type
Loss of function
Gene
PLEC  plectin [KO:K10388]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601282
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00584  Epidermolysis bullosa simplex
H00593  Limb-girdle muscular dystrophy
Reference
  Authors
Zrelski MM, Kustermann M, Winter L
  Title
Muscle-Related Plectinopathies.
  Journal
Cells 10:cells10092480 (2021)
DOI:10.3390/cells10092480
Reference
  Authors
Natsuga K
  Title
Plectin-related skin diseases.
  Journal
J Dermatol Sci 77:139-45 (2015)
DOI:10.1016/j.jdermsci.2014.11.005
LinkDB

DBGET integrated database retrieval system