KEGG   VARIANT: 57863v1
Entry
57863v1                      Variant                               
Name
NECL1 mutation
Type
Loss of function
Gene
CADM3  cell adhesion molecule 3 [KO:K06780]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609743
Network
nt06546  IgSF CAM signaling
Disease
H00264  Charcot-Marie-Tooth disease
Reference
  Authors
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S
  Title
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
  Journal
Brain 144:1197-1213 (2021)
DOI:10.1093/brain/awab019
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