KEGG   VARIANT: 55343v1
Entry
55343v1                      Variant                               
Name
SLC35C1 mutation
Type
Loss of function
Gene
SLC35C1  solute carrier family 35 member C1 [KO:K15279]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605881
Network
nt06015  N-Glycan biosynthesis
nt06035  Blood group carbohydrate antigen biosynthesis
Disease
H00119  Congenital disorders of glycosylation type II
Reference
PMID:24403049
  Authors
Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R
  Title
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
  Journal
Hum Mol Genet 23:2880-7 (2014)
DOI:10.1093/hmg/ddu001
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