KEGG   VARIANT: 4035v1
Entry
4035v1                      Variant                                
Name
LRP1 mutation
Type
Loss of function
Gene
LRP1  LDL receptor related protein 1 [KO:K04550]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107770
Network
nt06535  Efferocytosis
Disease
H00750  Keratosis pilaris atrophicans
Reference
PMID:26142438
  Authors
Klar J, Schuster J, Khan TN, Jameel M, Mabert K, Forsberg L, Baig SA, Baig SM, Dahl N
  Title
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
  Journal
J Med Genet 52:599-606 (2015)
DOI:10.1136/jmedgenet-2014-102931
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