Condition: Gaucher Disease, Type 3 (disorder)
rs121908310
in
GBA
gene and
Gaucher Disease, Type 3 (disorder)
PMID 8780099
1996 Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
PMID 11933202
2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
PMID 24022302
2014 Functional analysis of 11 novel GBA alleles.