KEGG   VARIANT: 55315v1
Entry
55315v1                      Variant                               
Name
SLC29A3 mutation
Type
Loss of function
Gene
SLC29A3  equilibrative nucleoside transporter 3 isoform a [KO:K15014]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612373
Network
nt06551  Lysosome
Disease
H00815  H syndrome
Reference
PMID:18940313
  Authors
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A
  Title
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
  Journal
Am J Hum Genet 83:529-34 (2008)
DOI:10.1016/j.ajhg.2008.09.013
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