KEGG   VARIANT: 56160v1
Entry
56160v1                      Variant                               
Name
NSMCE3 mutation
Type
Loss of function
Gene
NSMCE3  NSE3 homolog, SMC5-SMC6 complex component [KO:K22823]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608243
Network
nt06506  Double-strand break repair
Disease
H00094  Immunodeficiency associated with DNA repair defects
Reference
  Authors
van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G
  Title
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
  Journal
J Clin Invest 126:2881-92 (2016)
DOI:10.1172/JCI82890
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