KEGG   VARIANT: 4001v2
Entry
4001v2                      Variant                                
Name
LMNB1 mutation
Type
Loss of function
Gene
LMNB1  lamin B1 [KO:K07611]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150340
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00269  Primary microcephaly
Reference
  Authors
Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H
  Title
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
  Journal
Am J Hum Genet 107:753-762 (2020)
DOI:10.1016/j.ajhg.2020.08.015
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