KEGG   VARIANT: 10236v1
Entry
10236v1                      Variant                               
Name
HNRNPR mutation
Type
Loss of function
Gene
HNRNPR  heterogeneous nuclear ribonucleoprotein R [KO:K13161]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607201
Network
nt06547  Spliceosome
Disease
H03018  Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Reference
PMID:31079900
  Authors
Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW
  Title
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
  Journal
Am J Hum Genet 104:1040-1059 (2019)
DOI:10.1016/j.ajhg.2019.03.024
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