KEGG   VARIANT: 23299v1
Entry
23299v1                      Variant                               
Name
BICD2 mutation
Type
Loss of function
Gene
BICD2  BICD cargo adaptor 2 [KO:K18739]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609797
Network
nt06541  Cytoskeleton in neurons
Disease
H00455  Spinal muscular atrophy
Reference
PMID:32057122
  Authors
Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM
  Title
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
  Journal
Ann Neurol 87:487-496 (2020)
DOI:10.1002/ana.25704
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