KEGG   VARIANT: 3988v1
Entry
3988v1                      Variant                                
Name
LIPA deficiency
Type
Loss of function
Gene
LIPA  lipase A, lysosomal acid type [KO:K01052]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613497
Network
nt06535  Efferocytosis
Disease
H00148  Lysosomal acid lipase deficiency
Drug target
Sebelipase alfa: D10377<JP/US>
Reference
PMID:31230978
  Authors
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY
  Title
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
  Journal
Mol Genet Metab 127:212-215 (2019)
DOI:10.1016/j.ymgme.2019.06.005
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