KEGG   VARIANT: 26060v1
Entry
26060v1                      Variant                               
Name
APPL1 mutation
Type
Loss of function
Gene
APPL1  adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 [KO:K08733]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604299
Network
nt06325  Hormone/cytokine signaling
Disease
H00410  Maturity onset diabetes of the young (MODY)
Reference
PMID:26073777
  Authors
Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A
  Title
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
  Journal
Am J Hum Genet 97:177-85 (2015)
DOI:10.1016/j.ajhg.2015.05.011
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