KEGG   VARIANT: 10461v1
Entry
10461v1                      Variant                               
Name
MERTK mutation
Type
Loss of function
Gene
MERTK  MER proto-oncogene, tyrosine kinase [KO:K05117]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604705
Network
nt06535  Efferocytosis
Disease
H00527  Retinitis pigmentosa
Reference
PMID:11062461
  Authors
Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D
  Title
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
  Journal
Nat Genet 26:270-1 (2000)
DOI:10.1038/81555
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