KEGG   VARIANT: 10371v1
Entry
10371v1                      Variant                               
Name
SEMA3A mutation
Type
Loss of function
Gene
SEMA3A  semaphorin 3A [KO:K06840]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603961
Network
nt06541  Cytoskeleton in neurons
Disease
H00255  Hypogonadotropic hypogonadism
Reference
  Authors
Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, Garcia-Pinero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dode C
  Title
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
  Journal
PLoS Genet 8:e1002896 (2012)
DOI:10.1371/journal.pgen.1002896
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