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VARIANT: 55343v1
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Entry
55343v1 Variant
Name
SLC35C1 mutation
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
LinkDB
All DBs
DBGET
integrated database retrieval system