← New search
Variant profile

c.889C>T

c.889C>T · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
4Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
NAGLUHGNC:763211

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
developmental delayHP:000126311
asthma11
lysosomal storage diseaseHP:000354111
mucopolysaccharidosisHP:000815511

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia11

Supporting publications

1 records
  1. 2022A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.CureusPubMed ↗